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Soft tissue and Bone
Notes from ASCP, Lefkowitch and others
108
Pathology
Post-Graduate
09/08/2011

Additional Pathology Flashcards

 


 

Cards

Term

ASCP SOFT TISSUE

 

List the WHO 2002 benign lipomatous tumors

Definition
  • Lipoma
  • Lipoblastoma (septated, myxoid background); fetal version of benign fatty tumor/lipoma
  • Angiolipoma- often painful
  • Myolipoma- smooth muscle and fat
  • Chondroid lipoma (rare)
  • Angiomyolipoma- in PEComa family, commonly kidney, but in many locations; a/w tuberous sclerosis
  • Myelolipoma
  • hibernoma (uncommon)
  • Spindle cell/pleomorphic lipoma (often confused with malignant ST tumors)

**Malignant- but lipomatous tumors of intermediate malignancy (low-grade)=

  • **Atypical lipomatous tumor=Well-differentiated liposarcoma- high propensity for local recurrence, rarely mets
Term

ASCP SOFT TISSUE

 

This lesion had areas that looked like both of these pics (same tumor)- what is it?

[image]

[image]

Definition

ANSWER: Intramuscular lipoma

 

-benign lipomatous tumor.  The second picture represents atrophic skeletal muscle fibers- not pleomorphic malignant nuclei and do NOT represent transformation.

 

Intramuscular lipomas are always benign- but b/c they are often deeply located (in deep muscles of extremities), they clinically are confused with malignancy.

Term

ASCP SOFT TISSUE

 

What is the entity in the picture?

[image]

Definition

ANSWER: Hibernoma; or lipoma with hibernomatous change

 

*don't confuse these with lipoblasts!

Term

ASCP SOFT TISSUE

 

What entity is in the picture?  What is another growth pattern; what IHC stain is differentiating ftom other ST tumors of this kind?

[image]

Definition

ANSWER: angiomyolipoma

 

in the PEComa family of tumors (Perivascular epithelioid cell)

-coexpress smooth muscle and melanocytic markers (+HMB-45 and/or others)

 

Another growth pattern is solid- which is quite cellular, without significant fat cells and confused with more malignant entities:

[image]-retains bland perivascular epithelioid cells; and +HMB-45 (and possibly other melanocytic markers) as well as smooth muscle markers (SMA, desmin, etc)

Term

ASCP SOFT TISSUE

 

A well-circumscribed mass is excised and shown in the pictures- what is the entity and what are characteristic features

[image]

[image]

Definition

ANSWER: pleomorphic lipoma

 

*benign lesion- M>F; usually older (median 60 yrs); commonly shoulders/back/neck!; no recurrence or mets

-well-circumscribed; varying degrees of fat (may have very little); mostly composed of fibroblastic cells- with **Ropey collagen bundles!**- which are NOT seen in atypical lipomatous tumors/WDL

 

*Also commonly have floret type giant cells- which are characteristic, but not pathognomonic (may be seen in other tumors)

[image]

 

-the large pleomorphic cells are +CD34 (but so are ATL/WDL- so not very useful)

Term

ASCP SOFT TISSUE

 

What entity is identified in the pictures, malignant or benign? and what characteristic signals benignity or malignancy?

[image]

[image]

Definition

ANSWER: Spindle cell lipoma

 

-BENIGN; contains bland cells,with **Ropey collagen bundles** (just as with pleomorphic lipoma- and actually, molecularly these entities are related/the same)

-also presents as well-circumscribed mass of the shoulder, neck or upper back; with striking male predominance

-also CD34 +

-A/w del(16q) or del(13q)

(NO MDM2 amplification)

 

*and the main distinguishing characteristic from a malignant fibrous proliferation is the diffuse strong CD34 positivity

(whereas malignant tumors, though often CD34+ will be more patchy-weak)

[image]

Term

ASCP SOFT TISSUE

 

What entity is in the pictures?

-what is a defining feature

[image]

[image]

Definition

ANSWER: Atypical Lipomatous tumor/Well-differentiated liposarcoma

 

*grade 1/3 sarcoma, with local recurrence and low risk of mets (unless de-differentiates)

-Consists of bland fat with thickened, dense fibrous septa- which contain dark cells in the fibrous septa

*also don't look for lipoblasts!

[image]

-B/c, benign entities will have lipoblasts.

-often need molecular proof- MDM2 amplification- nearly 100% S/S for differentiating malignant (ATL/WDL) from benign (lipomas)- test with FISH (12q)

 

-clinical- if completely excised-- cured!

-if incompletely excised- may recur, then progress to de-differentiated higher grade sarcoma- and then have metastatic capability

Term

ASCP SOFT TISSUE

 

What structures are shown in the picture and what are they a/w?

[image]

Definition

left arrow= ring chromosome

right arrow= giant marker chromosome

 

Both are chromosomes with extra material from long arm of chr12 (12q)

-invariably these structures are found in ATL/WDL

-lead to amplification of several genes in this region- most notably and tested for is MDM2

-(other genes= CDK4)

Term

ASCP SOFT TISSUE

 

List the benign and malignant myxoid soft tissue lesions

Definition
  • BENIGN:
  • Nodular fasciitis (some growth patterns)
  • Myxoma (MC)
    • intramuscular
    • juxta-articular
    • cutaneous
  • Nerve sheath tumors
    • neurofibroma
    • neurothekeoma
    • schwannoma

 

  • MALIGNANT:
  • Myxoid liposarcoma
  • Myxofibrosarcoma (formerly myxoid-MFH)
  • Myxoid chrondrosarcoma
  • Low-grade fibromyxoid sarcoma (aka Evan's tumor)
  • many other sarcomas can show focal myxoid features
Term

ASCP SOFT TISSUE

 

what is the lesion shown; one distinguishing morphologic feature

[image]

Definition

ANSWER: Myxoma

 

-usually a large, deep-seated mass in older woman

-Distinguishing morphologic feature= scarcity/abscence of blood vessels- only scattered capillaries in loose myxoid matrix

-malignant myxoid lesions have prominent vasculature

 

-the myxoid matrix is almost always hyaluronic acid

(others= chondroitin sulfate)

 

Molecular: activating Gsα mutations

Term

ASCP SOFT TISSUE

 

Name the entity in the picture and what is its most distinguishing feature

[image]

Definition

ANSWER: Myxofibrosarcoma

 

-formerly known as: Myxoid-MFH

-most distinguishing histologic feature= chicken-wire vasculature

+hyperchromatic, atypical large cells

-has no characteristic molecular abnormalities

Term

ASCP SOFT TISSUE

 

what is the entity in the picture and its main DDx

[image]

Definition

ANSWER: Extraskeletal myxoid chondrosarcoma

 

-chord-like architecture; similar to chordoma (but different location)- located deep extremities

 

-main DDx: myoepithelioma, which will be cytokeratin+

 

Molecular: most common= t(9;22)(q22;q12)

-NR4A3/EWS

alternative (t(9;17)(q22;q11)= NR4A3/TAF2N

Term

ASCP SOFT TISSUE

 

What is the most likely diagnosis?

-what is the de-differentiated form, usual location; age consideration

-histologic patterns within same tumor and what is the typical pattern at the edges

[image]

[image]

Definition

ANSWER: Myxoid Liposarcoma

 

-relatively common= second most common type of liposarc (after ATL/WDL)

-most commonly located in extremities- thigh, popliteal fossa; almost NEVER in retroperitoneum- in this location is much more likely to be ATL/WDL

-in children- a lesion that looks like this is= lipoblastoma- a benign entity

-bland cells; grd 1/3; +/- lipoblasts- but finding them here (in myxoid matrix) is helpful to dx, so LOOK for them here.  +chicken-wire, think branching vasculature

[image]

-frequently show cystic areas- filled with amorphous light blue/purple material

[image]

 

-At the edges of the lesion- typically show hypercellularity with rounder, more plump cells; try to ignore, focus on the center of lesion; this findings does not indicate transformation

 

-these tumors are on the spectrum with and typically de-differentiate into Round cell liposarcoma= high grade (grade 3/3)

[image]

 

-Molecular: Most common= t(12;16)(q13;p11)= DDIT3 (aka CHOP)/FUS- better prognosis

-alternative= t(12;22)(q13;q12)= DDIT3/EWS- bad prog

 

*FISH for abnormal/breakapart 12q13 (DDIT3, aka CHOP)

Term

ASCP SOFT TISSUE

 

What is the most likely diagnosis of this tumor

-distinguishing histologic features; molecular abnormalities

[image]

Definition

ANSWER: Low grade fibromyxoid sarcoma (aka Evan's tumor)

 

-NOT to be confused with myxofibrosarcoma, a different entity

-looks very bland/benign; histology- alternating fibrous and myxoid stroma with abrupt change; and elaborate vasculature/thickened- in myxoid stroma; and perivascular collagen rosettes

 

-Molecular: t(7;16)(q33;p11)= CREBL2/FUS

-alternative: t(11;16)(p11;p11)= CREB3L1/FUS

 

*both involve 16p11= FUS gene

*NO mutation of DDIT3

Term

ASCP SOFT TISSUE

 

what is the most likely diagnosis and why

[image]

Definition

ASNWER: leiomyosarcoma

 

-highly pleomorphic, atypical, hyperchromatic cells; with fibrillar eosinophilic background

-IHC:+ for desmin, h-caldesmin, SMA

-may have more bland/leiomyoma-like areas, especially at periphery.

Term

ASCP SOFT TISSUE

 

list the pleomorphic sarcomas with differentiation and what is used to identify them

Definition
  • Pleomorphic liposarcoma- find pleomorphic lipoblasts

 

  • Pleomorphic MPNST- nerve origin; arise from neurofibroma, S-100+ in NF, but may be (-) in MPNST- so is essentially useless; dx of exclusion

 

  • Pleomorphic leiomyosarcoma- diffuse SMA/MSA/desmin or h-caldesmin

 

  • Pleomorphic rhabdomyosarcoma- rare, large pleomorphic, rhabdoid cells; skeletal muscle markers (=myogenin is the best)

 

  • Extraskeletal osteosarcoma- uncommon, has malignant osteoid/bone formation
Term

ASCP SOFT TISSUE

 

List the pseudosarcomas with MFH-like pattern and how to identify

Definition
  • Sarcomatoid carcinoma-  use multiple cytokeratins (will often be negative for some), most commonly from SCC (use CK 5/6, or p63)
  • Sarcomatoid mesothelioma-  CAM 5.2 (LMW ck)
  • Melanoma-  S-100, (+/- melanocytic markers)
  • Anaplastic lymphoma (ALK-1, CD30)
Term

ASCP SOFT TISSUE

 

What is the most likely diagnosis?

-what is the growth architecture described as?

-list the 3 varied clinical growth patterns; histology findings and clinical features

[image]

[image]

Definition

ANSWER: Nodular fasciitis

 

-described as "tissue culture" growth architecture; composed of bland cells, with open chormatin, small nucleoli (=myofibroblasts)

-consists of cellular lesion with vague fascicles; and focal myxoid degeneration is almost invariably present.

-MAY have numerous mitoses, but they should not be atypical

-later lesions may have ancient/hyalinization

-IHC: diffuse SMA+ (negative for desmin!)=myofibroblasts

 

-clinical: peak age young (20-35); presents as RAPIDLY growing mass, at site of trauma (but may not have hx of trauma); tx with local excision only.  Even if not treated- will scar down/self-limited

 

Other histologic types:

  • Proliferative fasciitis- similar background, with scattered large, ganglion-like cells
    • [image][image]
  • Ischemic fasciitis- aka atypical decubital fibroplasia, consists of zonal fibrinoid necrosis next to myofibroblastic areas with atypical/degenerating cells (smudgy nuclei)
    • [image][image]
Term

ASCP SOFT TISSUE

 

what is the most likely diagnosis and what stain is useful

[image]

[image][image]

Definition

ANSWER: cellular schwannoma

 

-highly cellular, composed almost entirely of Antoni A without verocay bodies

-encapsulated, with lymphoid aggregates in capsule; composed of bland, benign wavy schwann cells making short intersecting fascicles

-have characteristic thick walled, hyalinized bv's

 

-IHC: diffuse strong S-100+** (as compared to MPNST- which will be only focally S-100+)

[image]

Term

ASCP SOFT TISSUE

 

what is the main ddx with this architectural pattern; IHC

[image]

 

What is the most likely diagnosis- same tumor both pictures

[image]

-what is a characteristic feature of this type of tumor

Definition

ANSWER: Malignant Peripheral Nerve Sheath tumor (MPNST)

 

-Marbled growth pattern- main DDx= MPNST and monophasic synovial sarcoma

-however, by the second picture- see classic schwann cells, with wavy nuclei- however are more hyperchromatic, with nucleoli (compared to cellular schwannoma)

 

-S-100 will be patchy + at best (sometimes completely negative)- can differentiate from cellular schwannoma

 

-A characteristic fx- often undergo focal divergent differentiation, most commonly rhabdoid and the rhabdoid cells will be focally desmin +

[image][image]

 

-of MPNSTs: 50% are in pts with NF-1

-earlier age

-M>F

-central>extremity

 

[5% of pts with NF-1 will develop MPNST]

-MPNSTs develop from neurofibromas

 

CLinically indicated by pain or sudden enlargement of a neurofibroma

Term

ASCP SOFT TISSUE

 

What is the diagnosis?

[image]

Definition

 

ANSWER: biphasic synovial sarcoma

 

-rare entity; sarcomatous spindle backgorund, with gland-like spaces

Term

ASCP SOFT TISSUE

 

what is the most likely diagnosis (same tumor both pictures)

[image]

[image]

Definition

ANSWER: monophasic synovial sarcoma

 

-4 identified patterns of synovial sarcoma: (a) Biphasic; (b) Monophasic- fibrous (by far the most common); (c) monophasic-epithelioid (extremely rare); (d) Poorly differentiated (when the other subtypes de-diff to high-grade)

 

-histologically- have the same "marbled" pattern as MPNST, with small bland spindle cells; commonly has dense collagen and even ossification (not generally seen in other sarcomas)

[image]

 

-may have hemangiopericytoma-like pattern (focally)-[image]

-and rarely have epithelioid pattern, with plump cells, which may eve be CK+

[image]

 

-usually young (med age 26 yrs)

-M>F

-often palpable, PAINFUL, deep-seated

-MC- lower extremities; but found everywhere

-RARELY within joint cavities

 

-A helpful IHC to differentiate MSS vs MPNST:

-MSS= +CK7 and CK19

and less known but better IHC= TLE1 +in MSS only

 

-Molecular: t(X;18)(p11;q11)- *18q11 (formerly SYT)- now SS18 gene

-with one of three targets: SSX1 >>SSX2>SSX4

-use FISH breakapart probe for 18q11 to find all 3 translocations

Term

ASCP SOFT TISSUE

 

Round cell pattern-

What is the most likely diagnosis?; -the more differentiated version?; IHC, molecular

[image]

Definition

ANSWER: Ewings/PNET

 

-the picture shows uniform small round blue cells, with fine chromatin, small nucleoli= classical Ewings

-the more differentiated version= Peripheral neuroectodermal tumor (PNET)-which has fibrous septae and Homer-wright rosettes (no lumen, central fibrinous core)

[image]

 

-IHC: CD99+ - with membranous staining, +in this family of proteins (but not as specific- also +in most T-ALL)

 

-Molecular: **t(11;22)(q24;q12)= FLI1/EWS is the most common; but others also involving EWS (22q12)= t(21;22) (ERG); t(7;22) (ETV); t(17;22) (FEV); t(2;22) (E1AF)

 

Term

ASCP SOFT TISSUE

 

True or False.

Abnormalities of 22q12 are specific for only Ewings/PNET

Definition

FALSE

 

Many other tumors have translocations involving EWS gene at 22q12

 

  • t(11;22) and t(21;22)- EWS/PNET
  • t(11;22)- WT-1/EWS- in desmoplastic small round cell tumor (DSRCT)
  • t(12;22)- Clear cell Sarcoma (ATF-1/EWS)
  • t(9;22)- Extraskeletal myxoid Chondrosarcoma (NR4A3/EWS)
  • t(2;22)- Angiomatoid fibrous histiocytoma (CREB1/EWS)

And others have mutations/translocations involving 22q12

Term

ASCP SOFT TISSUE

 

What is the diagnosis?  What is the prognosis of this tumor

[image]

[image]

Definition

ANSWER: Alveolar Rhabdomyosarcoma

 

-one of the round cell pattern sarcomas

-most commonly, round cells with scant cytoplasm, sloughed into alveolar spaces

-CAN also be solid (2nd pic)- with nested architecture, and fibrovascular network, but cells haven't lost cell cohesions to cause alveolar pattern

 

-Molecular: t(2;13)(q35;q14)= PAX3/FKHR is the most common;

-less commonly- t(1;13)(q36;q14)= PAX7/FKHR

-up to 25% lack either of these translocations-however, confirmatory test with FISH for 13q14 breakapart probe is useful

 

*FKHR gene (13q14) is NOW known as FOXO1A)

 

-Must differentiate from embryonal rhabdomyosarcoma- which most commonly has spindle-ovoid cells with most fibrillary background

[image]-embryonal RMS

-However, MAY have more rounded up cells

[image]=embryonal

 

-IHC: all rhabdo's will be + for myogenin and MyoD1 (among other less specific muscle stains); these are the best 2 stains

 

-Alveolar RMS- has the worst prognosis (very poor) 

-intermediate prog= Embryonal

-Favorable= botryoid, spindle cell

Term

ASCP SOFT TISSUE

 

What is the most likely diagnosis? -prognosis, IHC

[image]

[image]

Definition

ANSWER: Desmoplastic Small Round Cell Tumor (DSRCT)

 

-islands of small round blue cells, separated by desmoplastic stroma- often confused for metastatic carcinoma

-focally may show rhabdoid differentiation

 

-younger pts; M>>F; most commonly in abdominal cavity

-prognosis is POOR, but may respond to aggressive therapy (ewing's protocol)

 

-IHC: coexpresses MANY markers- CK's, vimentin, WT-1, Desmin, NSE and some CD99

-desmin shows characteristic perimuclear globular staining

[image]

 

-molecular- t(11;22)

-WT1/EWS

-can FISH with EWS 22q12 breakapart probe to confirm

Term

LEFKOWITCH SOFT TISSUE

 

the soft tissue tumor with a characteristic t(9;22)(q22;q12) translocation:

-what are the genes involved, what is the product of the translocation

-what are the main ddx and differing features of each

Definition

ANSWER: Extraskeletal myxoid chondrosarcoma

 

-fusion of NR4A3 (9q22) with EWS (22q12)-->very different genes involved than BCR-ABL t(9;22)

-fusion product is a potent transcription activator

 

-other less common translocations:

  --t(9;17)(q22;q11) NR4A3:TAF2N

  --t(9;15)(q22;q21) NR4A3:TCF12

 

-ESMC- generally effects deep soft tissue of extremities (esp thigh), middle age; slow growing; characteristically have late metastases.  Histologically- generally low grade, only focally and weakly +S-100; EMA+, CD57+

Main DDx:

  • Chordoma: intraosseous, in axial skeleton (midline), and contains physaliphorous cells [image][image].  Chordoma- coexpress cytokeratins (esp CK8 and CK19) and most diffuse S-100 than ESMC
  • Mixed tumor of adnexal origin (ddx of subcutaneous variant of ESMC- which diffusely express cytokeratin and S-100; as well as myoepithelial markers -p63 and calponin
Term

LEFKOWITCH SOFT TISSUE

 

Deep-seated shoulder mass in 25 yr old female, with the following histology:

[image]

Definition

ANSWER: Aggressive fibromatosis (desmoid)

 

-usually affect young persons (<40 yo); in deep muscles (shoulder, chest wall, UE, thigh, H&N).  F>M; non-tender

 

-composed of uniform spindle cells arranged in long fascicles in collagenous matrix, with long-stretched vessels

-IHC: +SMA, but only focally desmin; S-100 and CD34 -neg

-clonal process; some have trisomy 8 or 20

 

Main DDx:

  • Fibrosarcoma- more cellular with herringbone pattern; more mitoses
  • Solitary myofibromas- lesion of infants; smaller, biphasic histology with a hemangiopericytic centrally and myofibroblastic peripherally
  • Smooth muscle tumors (leiomyoma, leiomyosarc)- diffuse strong + desmin, SMA, MSA, etc
Term

LEFKOWITCH SOFT TISSUE

 

Nodular mass in skin of back of middle aged man, looks like:

[image][image]

Definition

ANSWER: DFSP

 

-slow and progressive growth; from plaque-like to nodular

-entrapment of collagen fibers, uniform fibroblasts, in monotonous storiform pattern; with checkerboard fatty infiltration

-may undergo fibrosarcomatous transformation- req's at least 1 cm or 10-30% of tumor to call transformation

 

-A rare variant- showing melanocytic differentiation with melanin pigment (and  +melanocyte markers) = Bednar tumor

-juvenile variant: giant cell fibroblastoma

 

-IHC: +CD34

-Neg: S-100, SMA, desmin, CK, EMA

 

-molecular: recurrent translocation=

t(17;22)(q22;q13) or ring chromosomes with material from chr 17 and 22

Term

LEFKOWITCH SOFT TISSUE

 

the tumor(s) with a t(12;16)(q13;p11) translocation-

-histology description (what is the hallmark feature)

-transformation

-genes involved

-DDx

Definition

Answer: Myxoid Liposarcoma/Round cell liposarcoma

 

-two ends of the same spectrum of tumor a/w t(12;16)(q13;p11)= fusion of CHOP (12q13) and FUS (16p11)

(rare variant= t(12;22)-EWS:CHOP

 

-MLS- multinodular, abundant myxoid matrix (hyaluronic acid), small spindle cells with scatt-rare lipoblasts (univacuolated lipoblasts=hallmark of MLS; AND delicate chicken-wire vascular network is helpful); increased cellularity at periphery (is not round cell change)

-these lesions tranform to round cell sarcoma

-IHC is not helpful

 

-usually affects deep soft tissue of extremities (usually intramuscular)

 

-DDx:

  • Myxoid lipoma- no lipoblasts nor chicken-wire vascular network
  • Intramuscular myxoma- spindle and stellate cells, consists predominantly of myxoid matrix; sparse capillaries (no vascular network)
  • Myxoid DFSP- confined to dermis/subQ; IHC- diffuse CD34+
  • WDLS- typical multivacuolated lipoblasts; thickened fibrous septae, with large hyperchromatic cells, lacks the vascular network of MLS
  • Lipoblastoma- lobular architecture, looks very much like MLS- BUT is ONLY is early childhood
Term

LEFKOWITCH SOFT TISSUE

 

the tumor with a t(X;18)(p11;q11) translocation-

-describe histology and variants

-what genes involved

-IHC

-DDx

Definition

Answer: Synovial Sarcoma

 

-three (or four) histologic variants= biphasic (epithelial and spindle); monophasic (fibrous*, rarely epithelioid); pleomorphic

-well-circumscribed, originates adjacent to large joint (RARELY involves joint space)

-IHC: simple keratins+ (CK7, CK19), EMA, CD99 and Bcl-2.  Usually (-) for CD34; some cases +S-100

 

-Molecular: t(X;18)(p11;q11)= SYT (now SS18) (18q11) fused (most commonly) with SSX-1 or SSX2 (rarely SSX-4) all on chr X

 

DDx:

  • the biphasic pattern can be confused with carcinomas
  • Monophasic -
  • hemangiopericytoma: CD34+, Neg for CK
  • fibrosarcoma- neg for epithelial markers (CK, EMA)
  • MPNST- originates around large nerves, commonly in a/w NF-1
  • Pleomorphic- can be confused with Ewing's/PNET
Term

LEFKOWITCH SOFT TISSUE

 

a young child, with a rapidly growing mass in nasal cavity with following morphology:

[image]

[image]

-other variants/types of this tumor

-describe histology, prognosis

-which type has a specific translocation and what is it?

Definition

ANSWER: Botryoid rhabdomyosarcoma

 

-Botryoid: resemble embryonic/fetal muscle; consists of haphazard cells, with rhabdomyoblasts and scattered "strap cells"- contain cross-striations

[image]=strap cell

-Also has a characteristic prominent submucosal layer of increased cellularity= cambium layer

-Types:

  • Good prognosis:
    • Botryoid- GU, retroperitoneum, H&N 
    • Spindle cell- predilection for paratesticular
    • both subtypes of embryonal
  • Intermediate prognosis:
    • Embryonal
  • Poor prognosis:
    • Alveolar

 

-RMS is the most common malignant soft tissue tumor of children

-Only one RMS has a specific translocation= alveolar,

t(2;13)(q35;q14)- most commonly= FKHR (13q14) with PAX-3 (2q35)

-less common is t(1;13)- FKHR with PAX-7 (1q36)

 

 

Term

LEFTKOWITCH SOFT TISSUE

 

A young man with multiple ulcerated lesions on the forearm, histology looks like:

[image]

[image]

-most common location?; prognosis?; histologic description and variants

-IHC; DDx

Definition

Answer: Epithelioid Sarcoma

 

-most common sites= fingers, hands, forearms (usually presents distal extremities

 

-intermediated prognosis, typically have late metastases; 5-yr survival 75%; 10-yr=50%

 

-Histology: single or multiple well-circumscribed nodues, with central necrosis; lined by viable tumor cells, consisting of epithelioid cells with abundant eosinophilic cytoplasm

-variants: spindle cell, angiomatoid, rhabdoid

 

-IHC: + vimentin, EMA and some CK (CK7 usually); almost always (-) for CK20.  rare desmin, S-100; neg for melanocytic markers

 

DDx:

  • Superficial lesions: resemble rheumatic or infectious diseases with caseating granulomas (GA, TB, RA, etc)
  • Angiomatoid variant- can look like borderline or malignant vascular tumors (angiosarc, etc)
  • Spindle variant- can look like benign lesion (DF, nodular fasciitis, etc) or possibly synovial sarc (usually deep)
  • Rhabdoid variant: looks like rhabdomyosarcoma- however, RMS is usually deep-seated
  • Classical histology- may look like carcinoma, melanoma, IHC is needed.
Term

LEFKOWITCH SOFT TISSUE

 

Tumor from leg of young man, with following staining pattern, + for:

-vimentin, S-100, HMB-45, CD57, NSE

looks like:

[image]

[image]

Definition

Answer: Clear Cell Sarcoma

 

-small clusters, nests, fascicles of uniform round to oval cells with clear to eosinophilic cytoplasm, surrounded by delicate fibrous septae; often with vesicular chromatin and large nucleoli

-Very aggressive tumor; predilection for foot and ankles; distal extremities of 2nd-3rd decade; local recurrences and metastases

 

-deep-seated, with close proximity to tendons and aponeuroses

-IHC: + S-100, melanocytic markers (most), CD57, vimentin and c-kit.

-neg for EMA and keratins

 

-Molecular: specific translocation:

-t(12;22)(q13;q12)= ATF-1 (12q13) with EWS (22q12)

 

DDx:

  • *** Melanoma- has junctional component usually; lacks translocation
  • synovial sarc- histology is different and is +for EMA and keratin
Term

LEFKOWITCH SOFT TISSUE

 

deep-seated mass in chest wall of young man

[image]

-cell of origin?; common sites; tissues involved; prognosis; -IHC/SS

-DDx

Definition

Answer: granular cell tumor

 

-schwann cell origin

-commonly of soft tissue, GI and respiratory tracts

-superficial- dermis/skin; ST= UE, chest wall, thigh; mucosae

-predilection for african-american

 

-in cutaneous/mucosal lesions, a/w overlying pseudoepitheliomatous hyperplasia

-poorly circumscribed, sheets, or cords and nests of large, rounded to spindly cells with abundant granular PAS+ (d-R) granules (=phagolysosomes); wiht delicate fibrous septa

 

-benign lesion (>98%); RARE malignant (<2%)

-IHC: diffuse strong +S-100; +CD68; and NSE, laminin, myelin; (-) for GFAP

 

DDx:

  • carcinoma and smooth muscle neoplasms- IHC
  • hibernoma- typically vacuoles rather than granules
  • rhabdomyomas- well-circum; appear very similar, however, have more peripherally located  nuclei rather than central (GCT); and IHC- muscle markers+
Term

LEFKOWITCH SOFT TISSUE

 

Thigh mass young person

[image]

[image]=PAS

Definition

ANSWER: Ewing's sarcoma

 

-along the same spectrum of tumor (but with more differentiation= PNET (peripheral neuroectodermal tumor))

 

-histology: solide proliferation of round cells with round to oval nuclei, scant cytoplasm; abundant glycogen in cytoplasm (PAS+); atypical Ewings- cells are larger with more irregular nuclear contours and prominent nucleoli

-PNET- Homer-wright rosettes (central core filled wiht fibrillary neuropil like substance)

 

-prognostically: most important features are size at dx; location (proximal tumors are worse); and stage

 

-mainly affect young adults and adolescents (=second most common solid soft tissue tumor in children (after RMS)); arise in deep soft tissue; prefer paravertebral or retroperitoneum; but also involve extremities, chest wall, skin and visceral organs

 

-IHC: CD99 (not specific); also +FLI1, NSE, CD57, CK

 

Molecular: recurrent translocations involving EWS (22q12)- most commonly t(11;22)(q24;q12) (EWS:FLI1)

less commonly t(21;22)(q22;q12)= ERG:EWS

 

others rare- t(7;22), t(17;22), t(2;22)

 

DDx:

  • Neuroblastoma- esp if paravertebral location; usually younger pts (<5yrs), elevated urine VHA/UMA (catecholeamine metabolites); no glycogen
  • Rhabdomyosarcoma- also CD99+; but has muscle markers (myogenin, myoD1)
  • Round cell liposarcoma- also may be CD99+; but if excision, usually can find at least some areas with typical myxoid liposarc; and have different typical recurrent translocation t(12;16)(q13;p11)= CHOP:FUS
  • malignant lymphoma- IHC veyr different
  • Poorly differentiated synovial sarc- has typical translocation t(X;18); and usually +EMA and keratins
  • MPNST- may have similar areas, but most of the tumor will look more typical of MPNST and doesn't have the translocation
Term

LEFKOWITCH SOFT TISSUE

 

Tongue lesion in young child with a characteristic translocation identified which look like this:

[image]

[image]

-what is the translocation involved and the genes; histologic description, IHC, and SS; DDx

Definition

ANSWER: Alveolar Soft part sarcoma

 

-affects children and young adults; MC- buttocks, thigh; however, in young children- mc sites are tongue and orbit; slow growing

 

-histology: compartments separated by dense fibrous septa filled with tightly packed tumor nodules with delicate vascular meshwork; cells lose cohesion to form alveolar pattern; vascular invasion is common

-cells have abundant pale to eosinophilic cytoplasm, with d-PAS+ crystals

 

-IHC: variably +desmin; +vimentin

-Neg for myogenin/myoD1, CKs, chromo/synapto, and S-100

 

Molecular: the recurrent translocation is unbalanced, t(X;17)(p11.2;q25)= TFE3 (Xp11) and ASPL (17q25)

 

DDx:

  • Paraganglioma- neuroendocrine markers; Granular cell tumor- S-100+ no vascular meshwork
  • metastatic melanoma- usually older pts; lacks translocation
  • Metastatic renal cell carcinoma- the subset that effects young children actually has a TFE3-ASPL translocation which is slightly different than ASPS: it's balanced t(X;17)(p11;q25); RCC has epithelial differentiation- with IHC
  • Epithelioid sarcoma- lacks alveolar pattern and delicate capillaries; is +keratins and CD34 and neg for desmin
Term

LEFKOWITCH SOFT TISSUE

 

18 yr old male with antecubital fossa mass

 

-thick fibrous capsule, with prominent cuff of chronic inflammatory cells (occ germinal centers)

-center of lesion had large blood-filled spaces

Definition

ANSWER: angiomatoid fibrous histiocytoma

 

-textbook defining description- thick fibrous pseudocapsule with prominent lymphoid infiltrate and center eith blood-filled spaces

[image][image]

 

-variable desmin+; +CD68, CD99

 

-children and young adults; prefers extremities, especially in sites where lymph nodes are- ie antecubital and popliteal fossae

-indolent; rare recurrence

 

DDx:

  • any metastatic tumor to lymph node- IHC needed
  • Dendritic reticulum cell tumor- CD21 and CD35+[image]
  • Aneurysmal fibrous histiocytoma- lacks dense fibrous pseudocapsule and inflammatory infiltrate; is desmin(-)

[image][image]

 

Term

LEFKOWITCH SOFT TISSUE

 

Name the tumor a/w the genetic abnormality and the genes involved

 

t(X;17)(p11.2;q25)

Definition

ANSWER: Alveolar soft part sarcoma

 

-unbalanced translocation

-involving TFE3 (Xp11) with ASPL (17q25)

Term

LEFKOWITCH SOFT TISSUE

 

Name the tumor a/w the genetic abnormality and the genes involved

 

t(8;12)(p12;q15)

Definition

ANSWER: aggressive Angiomyxoma

 

-involves HMGIC gene

Term

LEFKOWITCH SOFT TISSUE

 

Name the tumor a/w the genetic abnormality and the genes involved

 

Losses of chr 7 and 22; Gains of chr 5, 8, 20

Definition

ANSWER: Angiosarcoma

 

several genes

Term

LEFKOWITCH SOFT TISSUE

 

Name the tumor a/w the genetic abnormality and the genes involved

 

t(9;22)(q22;q12)

Definition

ANSWER: extraskeletal myxoid Chondrosarcoma

 

-Main translocation =t(9;22)(q22;q12)= NR4A3 (9q22) with EWS (22q12)

 

Less commonly:

-t(9;17)(q22;q11)= NR4A3 with TAF2N (17q11)

-t(9;15)(q22;q21)= NR4A3 with TCF12 (15q21)

Term

LEFKOWITCH SOFT TISSUE

 

Name the tumor a/w the genetic abnormality and the genes involved

 

t(12;22)(q13;q12)

Definition

ANSWER: Clear cell sarcoma

 

-t(12;22)(q13;q12)= ATF-1 (12q13) with EWS (22q12)

Term

LEFKOWITCH SOFT TISSUE

 

Name the tumor a/w the genetic abnormality and the genes involved

 

-Ring chromosomes with material from chr 17 and 22

-or t(17;22)(q22;q13)

 

two entities (same genetics)

Definition

ANSWER: Dermatofibrosarcoma protuberans and it's exclusively childhood counterpart= Giant cell fibroblastoma

 

several genes involved in ring chromosomes

-translocation makes fusion product of: COL1A1 (17q22) with PDGFB (22q13)

Term

LEFKOWITCH SOFT TISSUE

 

Name the tumor a/w the genetic abnormality and the genes involved

 

t(11;22)(p13;q12)

Definition

ANSWER: Desmoplastic small round cell tumor

 

-fusion of Wilm's tumor-1 (WT-1) (11p13) with EWS (22q12)

Term

LEFKOWITCH SOFT TISSUE

 

Name the tumor a/w the genetic abnormality and the genes involved

 

t(11;22)(q24;q12)

Definition

ANSWER: Ewing's/PNET

 

-the main translocation= t(11;22)(q24;q12)= fusion of FLI-1 (11q24) with EWS (22q12)

 

Additional, less common translocations, all involving EWS (22q12)

-t(21;22)(q22;q12)= ERG (21q22) with EWS

Rare:

-t(7;22), t(17;22), t(2;22)

Term

LEFKOWITCH SOFT TISSUE

 

Name the tumor a/w the genetic abnormality and the genes involved

 

t(12;15)(p13;q25)

Definition

ANSWER: Congenital/infantiles fibrosarcoma

 

-t(12;15)(p13;q25)= fusion of ETV6 (12p13) with NTRK3 (15q25)

 

this same cytogenetic abnormality is seen in congenital mesonephric blastoma (?related tumors)

Term

LEFKOWITCH SOFT TISSUE

 

Name the tumor a/w the genetic abnormality and the genes involved

 

complex rearrangements involving 11q13

Definition

ANSWER: Hibernoma

 

-several genes involved in the large deletions of 11q13 or translocations

-including but not limited to MEN1, GARP, CCND1, FGF3, ARIX, PGYM

Term

LEFKOWITCH SOFT TISSUE

 

Name the tumor a/w the genetic abnormality and the genes involved

 

children or young adult with translocation involving 2p23

Definition

ANSWER: Inflammatory myofibroblastic tumor

 

-ALK-1 gene (2p23)

Term

LEFKOWITCH SOFT TISSUE

 

Name the tumor a/w the genetic abnormality and the genes involved

 

rearrangements of 8q12

Definition

ASNWER: Lipoblastoma

 

-PLAG1 gene (8q12)

Term

LEFKOWITCH SOFT TISSUE

 

Name the tumor a/w the genetic abnormality and the genes involved

 

t(12;16)(q13;p11)

Definition

ANSWER: Myxoid/round cell liposarcoma

 

-t(12;16)(q13;p11)= fusion of CHOP (12q13) with FUS (16p11)

 

rare alternate= t(12;22)(q13;q12)= CHOP:EWS

Term

LEFKOWITCH SOFT TISSUE

 

Name the tumor a/w the genetic abnormality and the genes involved

 

supernumary "ring" and giant marker chromosomes with amplification of 12q14-15

Definition

ANSWER: Well-differentiated Liposarcoma/ aka Atypical Lipomatous tumor

 

-12q14-15 causes amplification of several genes, but hallmark tested for in ATL/WDL = MDM2

Term

LEFKOWITCH SOFT TISSUE

 

Name the tumor a/w the genetic abnormality and the genes involved

 

loss of large portion of short arm of Chr 1 (involving 1p36.2-1p36.3)

and

Amplification of MYCN (2p24)- similar to c-myc protooncogene

Definition
ANSWER: Neuroblastoma
Term

LEFKOWITCH SOFT TISSUE

 

Name the tumor a/w the genetic abnormality and the genes involved

 

t(2;13)(q35;q14)

Definition

ANSWER: Alveolar rhabdomyosarcoma

 

-most common translocation= t(2;13)(q35;q14)= FKHR (13q14) with PAX3 (2q35)

 

-less commonly: t(1;13)(p36;q14)= FKHR with PAX 7 (1q36)

Term

LEFKOWITCH SOFT TISSUE

 

Name the tumor a/w the genetic abnormality and the genes involved

 

t(X;18)(p11;q11)

Definition

ANSWER: Synovial sarcoma

 

- SYT (now SS18) gene on chr 18q11 with one of three genes- SSX1 (most commonly), SSX2, SSX4 on Xp11

Term

LEFKOWITCH SOFT TISSUE

 

What is the most common type of angiosarcoma?

Definition

ANSWER: Cutaneous Angiosarcoma not associated with lymphedema

 

-Other types: Post-radiation, AS a/w lymphedema (ie after mastectomy with axillary dissection); AS of breast parenchyma; deep soft tissue AS; and AS of liver and spleen

 

-AS- superficial, has predilection for scalp and forehead; lower grade lesions more common in superficial locations

-Histology: irregular vascular spaces, dissecting through normal structures (dermis, subQ), lined by large endothelial cells wiht hyperchromatic nuclei and pseudostratification and piling-up to form papillary structures

[image][image]

-higher grades- have more atypia and mitoses; poorly diff- more solid growth

 

-IHC: CD31, CD34 (50%), factor VIII (in well-diff); +others (Ulex europaeus, CD141=thrombomodulin; VEGFR, FLI1

-the epithelioid type (and some others) may be CK + (esp CK7, 8, 18)

 

-Angiosarc's a/w losses of chr 7 and 22; and gains of 5, 8, and 20

Term

LEFKOWITCH SOFT TISSUE

 

middle aged man with superficial tumor of skin on upper extremity; composed of epithelioid cells, abundant myxoid stroma with strands and nests of cells- with "signet ring appearance"; a large vein is at the center of the lesion and is involved

[image][image]

Definition

ANSWER:  Epithelioid hemangioendothelioma

 

-low-grade malignancy; wide age range (rare in children); predilection for skin and ST; also in deep organs (liver and lung)

-in ST: up to 30% metastasize; usually solitary, painful; origin from a vein often found

-tumor cells radiate into soft tissue surrounding the involved vein; often with myxoid-chondroid matrix.  tumor cells may have signet-ring appearance (primitive intracyoplasmic lumina)

[image][image]

 

-IHC: diffusely +CD31, variable, less consistently with CD34 and fVIII; focally+ for ck's (CK 7, 8, 18)

 

-DDx:

  • Epithelioid hemangioma: aka angiolymphoid hyperplasia with eosinophils; central vessel surrounded by cloud of well-formed small vessels; NO solid sheets/cords or nests or tumor cells; infiltrated by eosinophils, lymphs with gc's and pc's[image]
  • Angiosarcoma- does not arise from a vein and is not angiocentric; AS with epithelioid fx is usually more deep-seated; tumor necrosis; and more cytologic atypia
  • Epithelioid sarcoma- IHC- ES is diffusely + for CK's and CD34; neg for other vascular markers (CD31, fVIII)
Term

LEFKOWITCH SOFT TISSUE

 

65 yr old woman with mass under scapula, composed of fibrous tissue interspersed with mature fat

[image]

Definition

ANSWER: Elastofibroma

 

-usually older (6th-7th decades); F>M; h/o repetitive maual labor or chronic trauma

-arises from connective tissue between chest wall and scapula and adheres to costal periosteum

-usually large

-histology: composed of fibrous tissue with variable amt of mature fat, paucicellular; fibrous matrix contains thick, convoluted elastic fibers (elastic stain+)

[image]

Term

LEFKOWITCH SOFT TISSUE

 

Young boy with large mesenteric abdominal mass; showing spindle cell lesion with prominent inflammatory infiltrate (lymphs, histio, PC's, eosinophils); no recurrence or mets after excision

[image][image]

Definition

ANSWER: Inflammatory myofibroblastic tumor

 

-many lesions are in hte lung (also called plasma cell granuloma);  of the extrapulmonary IMT- mesentery and omentum are mc sites; predilection for young children (<10yr)

 

-histology: a proliferation of bland spindle cells and variable patterns: myxoid (nodular fasciitis-like), cellular with storiform-fascular pattern; dense stromal (aggressive fibromatosis-like)

-with prominent inflammatory infiltrate

[image]

 

-IHC: Vimentin, SMA, HHF-35, focal desmin; CD68 in histiocytes; S-100 neg

-up to 60% + ALK-1

 

DDx:

  • Hodgkin's lymphoma- RS and RS-like cells, CD15 and CD30+
  • Congenital/infantile fibrosarcoma- malignant, present at birth or in 1st yr; rarely in mesentery, a/w t(12;15)
  • Desmoid- usually develop in mesentery after surgery; commonly in pts with Gardner syndrome
Term

LEFKOWITCH SOFT TISSUE

 

multiple skin lesions, young child/infant and lytic bony lesions; well-circumscribed, unencapsulated with spindle and hemangiopericytic patterns

[image][image]

Definition

ANSWER: Myofibromatosis

 

-most commonly presents as single superficial lesion= solitary myofibroma

-most freq in young children/infants- where is typically superficial, but can be in deep ST, bone, visceral organs

-Adult version- solitary and superficial only

 

-Histology: biphasic morphology, fascicular myofibroblastic cells at periphery and hemangiopericytic-like center (which may be hyalinized, necrotic, calcified, etc)

-adults usually more multinodular with less evidence hemangiopericytic pattern

[image]=adult myofibroma

 

-IHC: for typical myofibroblastic markers- SMA, HHF-35, neg for desmin; S-100 (-)

 

DDx:

  • Nodular fasciitis- more subQ with fascial involvement; lacks zonation/biphasic pattern
  • Fibrous histiocytoma (aka dermatofibroma)- lesion of adulthood, with epidermal hyperplasia and lacks biphasic pattern
  • Hemangiopericytoma- uncommon in young; lacks biphasic (and different IHC)
  • Deep lesions- ddx= congenital fibrosarcoma- lacks biphasic pattern; recurrent translocation- t(12;15)(p13;q25)= ETV6:NTRK3
Term

LEFKOWITCH SOFT TISSUE

 

A large intraabdominal mass- spindle cell lesion with alternating areas of hemangiopericytic, fibrous and myxoid areas

[image][image]

Definition

ANSWER: Solitary Fibrous Tumor

 

-affects adults, usually in pleura, or other serosa-lined cavities (peritoneum, orbit, meninges, ST, etc)

 

-Histology: polymorphic- alternating, variable areas of cellular fibrous or hemangiopericytic patterns with dense collagenous or myxoid hypocellular areas.  Uniform spindle cells, low mitotic rate

 

-Rare malignant cases- have more cytologic atypia and mitoses >4/10hpfs

 

-IHC: consistent CD34+

 

DDx:

  • Hemangiopericytoma- both are CD34+; with classic staghorn vasculature throughout- HPC; with prominent fibrous areas= SFT
  • Fibrosarcoma- herringbone pattern, CD34(-); +for myofibroblastic markers
  • Monophasic synovial sarcoma- usually +cytokeratins and EMA, and focal S-100
  • GIST- if in abdominal cavity- may also be CD34+; but also +c-kit (CD117)
Term

LEFKOWITCH SOFT TISSUE

 

middle aged man with acromegaly, spotty pigmentation of face, paravertbral tumor= spindle cell with pigment

 

-what is the complex and genes affected

 

Definition

ANSWER: Carney Complex

 

-acromegaly, spotty pigmentation of face and a pigmented melanotic schwannoma- in this case

 

-Major Dx'c criteria: spotty skin pigmentation, myxomas of different organs, pigmented nodular adrenal cortical dz, large cell calcifying Sertoli cell tumor, thyroid carcinoma, psammomatous melanotic schwannoma, epithelioid blue nevi, breast duct adenomas; + family hx and mutation of PRKARIA gene

 

-autosomal dominant, genes on 17q22-24 (CNC1)- contains tumor suppressor gene PRKARIA; and 2p16 (CNC2)- unknown

 

 

*not to be confused with Carney triad= nonfamilial association= GIST, pulmonary chondroma and extra-adrenal paraganglioma; F>M

Term

LEFKOWITHC SOFT TISSUE

 

Decribe features of McCune-Albright syndrome

Definition
Fibrous dysplasia, cafe-au-lait pigmentation, and endocrinopathies (sexual precocity, hyperthyroid, GH-pituitary adenomas, adrenal hyperplasia)
Term

LEFKOWITCH SOFT TISSUE

 

Describe features and gene invovled in:

-MEN1

-MEN2A

-MEN2B

-familial medullary thyroid cancer syndrome

Definition

 

  • MEN1- aka Wermer's syndrome, mutation of MEN1 (11q13)
    • Parathyroid hyperplasia and adenomas
    • Pancreas- endocrine tumors
    • Pituitary adenomas (esp prolactinomas)
  • MEN2 (all):  constitutional activation of RET (proto-oncogene) (10q11.2)- includes MEN2A, MEN2B and familial medullary thyroid ca
    • MEN2A- aka Sipple's syndrome
      • Pheochromocytoma (adrenal)
      • Thyroid- medullary carcinoma and C-cell hyperplasia
      • Parathyroid hyperplasia
    • MEN2B- contains all tumors/features of MEN2A+
      • mucocutaneous ganglioneuromas
      • marfanoid habitus
    • Familial medullary thyroid carcinoma syndrome- variant of Type 2A with strong predisposition to medullary thyroid carcinoma
Term

LEFKOWITCH SOFT TISSUE

 

Infant with the following skin lesion

[image][image]

Definition

ANSWER: Juvenile Xanthogranuloma

 

-infants and young children (<20 yrs); benign; usually superficial, solitary lesions; may be deep or multiple

 

Histology- mostly bland mononuclear cells, with abundant pink or vacuolated cytoplasm; interspersed Touton-type giant cells and scattered inflammatory cells

-commonly have many mitosis and cytologic atypia

 

-IHC: fascin, CD68, fXIIIa, CD45, HLA-DR, CD4; some with S-100

-neg for CD1a, CD3, CD21, CD34 and CD35

 

DDx:

  • Main ddx= langerhans cell histiocytosis- also of younf children, with histiocytes; lack Touton giant cells, and are CD1a+, and diffusely S-100
  • Rosai-dorfman disease- mainly in lymph nodes, can present extranodal; S-100+ and CD1a neg; large histiocytes with emperipolesis
  • Dermatofibroma- older age group, lacks giant cells
  • Xanthoma- uniform foamy histiocytes.
Term

LEFKOWITCH SOFT TISSUE

 

40 yr old woman, pelvic mass, infiltrative margins, large

[image][image]

Definition

ANSWER: Aggressive angiomyxoma

 

-locally aggressive, mostly only women affected; reproductive ages; typically in pelvis and perineum

-local recurrence common, rare metastasis

 

-Histology: infiltrative margins, hyppcellular, composed of uniform spindle to stellate cells in loose variably collagenous matrix; prominent open vascular channels with thickened walls and bundles of smooth muscle a/w vessels

 

IHC: +vimentin, desmin, ER and PR*; sometimes SMA, MSA and CD34; Ki-67 <1%;

-S-100(-)

 

Molecular: rearrangements of 12q15 (no single recurrent translocation);= HGMIC (a fetal gene)

 

DDx:

  • Angiomyofibroblastoma- smaller, limited to vulva; delicate vasculature and cell crowding around vessels
  • Intramuscular myxomas- RARE in genital/pelvic region; lack prominent vessels
  • Myxoid liposarcoma- chicken-wire, prominent vasculature; and lipoblasts
  • Spindle cell lipoma- subQ of neck, posterior shoudler or back; dual population of spindle cells and fat; lack open vasculature
  • Superficial angiomyxoma- dermis and subQ of genital region; less cellular, with abundant acid mucopolysaccharide; sparse vascularity; and are ER and PR (-)
Term

ASCP BONE

 

young pt, bony lesion extending from metaphysis of distal femur, along origination of tendon tract

looks like:

[image]

Definition

ANSWER: Osteochondroma

 

-benign bone tumor, usually solitary, young pts (60% <20 yo); most commonly in metaphysis of long bones:

-Distal femur> proximal humerus>prox tibia

 

=an exostosis= outgrowth of cortical and medullary bone- which is continuous with underlying bone cavity; completely covered by periosteum

 

[multiple hereditary exostosis- an autosomal dominant d/o]

 

-Rad: lesional cortex and medullary cavity continuous with originating bone; often arise at site of tendon insertion and grow in direction of tendon)

[image]

 

-grossly- sessile or pedunculated; with a thin regular blue/gray cap- usually <2 cm in thickness (if >2cm may indicate malignancy); exception: kids usually have a large cap, over cancellous bone

[image]

 

-histology: the cartilage cap= chondrocytes in lacunae- peripherally in clusters and in columns near the base (simulates nl epiphysis); stalk composed of cancellous bone surrounded by fat and bone marrow

[image][image]

 

DDx:

  1. Parosteal osteosarcoma- looks worse radiographically; stalk has fibrous tissue, NOT BM and fat
  2. Chondrosarcoma arising in osteochondroma- these get real big
  3. Bizzare parosteal osteochondromatous proliferation (Nora's lesion)- surface of small bones- unsure is reactive or neoplastic
  4. Heterotopic ossification- reactive, no cartilage cap
  5. subungual exostosis- usually big toe of kids
Term

ASCP BONE

 

cartilaginous tumor in bone of hand, intramedullary mineralization, looks like:

[image]

Definition

ANSWER: Enchondroma

 

-benign, intramedullary cartilage tumor; very common; most are 15-40 yo

-50% located in small bones (hands, feet)

-most commonly as a solitary tumor

 

-Two clinical syndromes a/w enchondromas:

  1. Ollier's disease: multiple enchondromas involving entire skeleton, half the body or one limb; look more worrisome, b/c show increased cellularity
  2. Mafucci's syndrome: multiple enchondromas and soft tissue hemangiomas; increased risk of chondrosarcoma

 

-Rad: intramedullary rarifaction; +/- mineralization

-long bones: no cortical erosion or destruction

-small bones: may have thinned/expanded cortex due to size--> pathologic fx

[image]

 

Gross- usually curetted out, cartilaginous tissue, NO myxoid or mucoid quality (=more susp for chondrosarc)

 

-histology: cartilage (benign)

-long bones: hypocellular, bland cytology, occassional degenerative change

-short bones: moderately cellular (more than long bones), increased nuclear size; may have some myxoid change; NO invasion of medullary or cortical bone

[image]

*however, usually consists of lobules of cartilage which with mineralization around edges can look like destruction of bone.

[image]

-lesion abuts cortical bone without destruction

 

DDx:

  1. Chondrosarcoma: atypia, large cells, hypercellular, destruction of cortical bone
    • in between category: atypical enchondroma

 

 

 

Term

ASCP BONE

 

benign appeared radiograph, tumor in distal femur, looks like:

[image]

Definition

ANSWER: Chondroblastoma

 

-uncommon benign bone tumor; 60% in long tubular bones

-distal femur> prox humerus> prox tibia

-young pts (2nd decade)

 

-Rad: benign radiographic appearance; lucent defect at end of bone: 40% epiphysis only, 60% epiphysis and metaphysis

-50% have sclerotic rim

[image]

 

-histology:

-lobules of pink chondroid matrix surrounded by sheets of mononuclear cells, with well defined cell boundaries, eosinophilic cytoplasm

-cartilaginous matrix, but looks pink rather than blue

-35% lacy, chicken-wire calcification, also can calcify chunky

-MNGC are common

[image][image]=Ca2+

 

DDx:

  1. Giant cell tumor- also at end of bones, lacks chondroid matrix
  2. Chondromyxoid fibroma- chondroid is more blue
  3. osteosarcoma- rad- looks malignant, cytologically atypical
Term

ASCP BONE

 

radiographically benign bone lesion at metaphysis, looks like:

[image]

Definition

ANSWER: Chondromyxoid fibroma

 

-rare tumor; 2nd-3rd decades; occur in long bones: prox tibia> distal femur; flat bones: ilium, ribs; and hands and feet

 

Rad: benign appearing, usually at metaphysis, located eccetrically, circumscribed and scalloped/sclerotic rim

[image][image]

 

-histology: lobulated- either macrolobules or microlobules; oval to spindle cells with cytoplasmic extensions, myxoid-chondroid matrix; and MNGCs

[image][image]

[image]

 

DDx: chondroblastoma, chondrosarcoma

 

Term

ASCP BONE

 

describe radiographic and histologic features of conventional chondrosarcoma

Definition

Conventional Chondrosarcoma

 

-M>F; most in 4th-6th decade; most in pelvic and shoulder girdle; +upper ends of femur and humerus; <3% distal to wrist/ankle

 

-Rad: Large (avg9.5 cm), 75% mineralization, poorly marginated; MOST have cortical abnormalities- endosteal scalloping, cortical destruction, expansion, thickening

-40% with assoc soft tissue mass

 

Gross: lobulated, blue/white, solid or partially cystic; myxoid change; degenerative/liquefactive necrosis/hemorrhage; grossly permeative

[image]

 

Histology:

-hypercellular

-nuclear enlargement/hyperchromasia

-permeation of cortical and medullary bone

-myxoid stromal changes

[image]=permeation

[image]=myxoid change

-designated into 3 grades based on cellular atypia, most cases are grade 1-2, grd 3 is rare

 

[image]=Grade 1

[image]=Grade 2

[image]=Grade 3

 

Tx:

-requires wide excision

-NON-responsive to chemo and radiation

Term

ASCP BONE

 

older person, pelvic girdle, large tumor originating in bone with aggressive soft tissue component

looks like:

[image]

Definition

ANSWER: De-differentiated Chondrosarcoma

 

-**bimorphic pattern- sampling important; consists of low-grade chondrosarcoma juxtaposed to a high grade sarcoma (=osteosarc, HG spindle cell sarc, pleomorphic undifferentiated sarcoma)

[image]

 

-older adults (one decade older than conventional), occurs de novo or in recurrent tumors;

-most common in pelvic and shoulder girdle

 

-Rad: central portion appears as normal cartilaginous tumor (still malignant), but with areas of lucency and predominantly the ST component- looks aggressive

[image]

 

DDx

-metastatic sarcomatoid carcinoma -CK+

-Primary sarcoma of bone

 

Tx: en bloc resection; +/- chemo

prog: worse than conventional chondrosarc

Term

ASCP BONE

 

what is the tumor, where is it usually located, main histologic features

[image]

Definition

ANSWER: Clear Cell Chondrosarcoma

 

-extremely uncommon

-M>F

-tends to involve ends of long bones (prox femur and humerus)

-4th-5th decades

 

Rad: lytic, extending to end of bone; may look benign; <50% with calcification

 

-Histology: lobulated; tumor cells have *distinct cytoplasmic boundaries; central nucleus and clear cytoplasm

-trabeculae of woven bone/osteoid present commonly

-50% contain nodules of conventional chondrosarc

[image][image]

 

DDx:

-chondroblastoma

-osteoblastoma

-osteosarcoma (esp chondroblastic osteosarc)

Term

ASCP BONE

 

bone tumor in jaw, 20 yo male, looks like:

[image]

Definition

ANSWER: Mesenchymal chondrosarcoma

 

-2/3 in bone, 1/3 in ST

-2nd-3rd decade

**Jaw- common site

-also- ilium, spine, ribs

 

-malignant radiographic appearance

 

-histology: well-differentiated hyaline cartilage, merging or juxtaposed to high-grade small blue cell tumor- with branching staghorn vascular pattern

[image][image]

Term

ASCP BONE

 

What is the following entity?[image]

[image]

-radiographic findings, pt demographics, common site, histology

Definition

ANSWER: Osteoid Osteoma

 

-a nidus, sharply demarcated originating in cortex, composed of irregular trabeculae of woven bone, with loose fibrovascular stroma;  trabeculae lined by benign appearing osteoblasts

 

-almost all <1.5 cm

-most common in adolescents/young adults (5-24yrs)

*-Painful!- relieved with NSAIDS

-most commonly in proximal femur

 

Rad: sclerosis and new bone surrounding nidus- centered in cortex; CT most helpful in identifying nidus- often missed on plain XR

[image][image]

 

-gross: well-demarcated red-brown nidus, surrounding sclerotic or cortical bone

[image]

Term

ASCP BONE

 

what is the lesion?

-radiographic features, DDx

[image][image]

Definition

ANSWER: Osteoblastoma

 

- histologically looks very similar to osteoid osteoma (=woven bone, osteoblasts, fibrovascular stroma), usually with more osteoblasts, and MNGCs and solid areas of bone formation

 

-*as opposed to osteoid osteoma- these are >2cm

-most are young (<25 yo)

-presents in long bones> spine>jawbones

 

-Gross- tan/red brown, friable; well-demarcated

 

-*Rad: May have malignant appearance, though is benign

-variable

 

DDx:

  • Osteosarcoma- difficult to differentiate, esp in needle biopsy; show growth into and entrapment of soft tissue and bone
  • osteoid osteoma- <1.5 cm, different radiology, less solid bone growth
  • ABC
  • Giant cell tumor
Term

ASCP BONE

 

categories of osteosarcomas:

 

-by location

 

-histologic types

Definition

 

Osteosarcoma

 

-Locations:

  • Medullary: =conventional osteosarc
  • Surface:
    • Parosteal
    • Periosteal
    • High grade surface osteosarc

Histologic types:

  • Osteoblastic [image]
  • Chondroblastic [image]
    • has high grade cartilage component, if low-grade, think something els
  • Fibroblastic [image]
  • Telangiectatic [image]
    • cystic, scraps of high grade tumor with very little bone formation
  • Low-grade central
  • Giant cell rich
  • small cell

-histologic type- not related to prognosis, just for recognition- most are high grade (gr 3-4)

 

Term

ASCP BONE

 

what is the lesion?

[image]

-general info, rad features, treatment

Definition

ASNWER: Conventional, osteoblastic osteosarcoma

 

-*is the second most common malignant bone tumor

 

-in young, 85% are <30 yo

-Distal femur>prox tibia>prox humerus> prox femur

 

-**metaphyseal of long bones

 

-Rad: aggressive, destructive

-*"codman's triangle"- lifting off of periosteum

[image]

-lytic, sclerotic "moth-eaten"

-MR and CT needed to evaluate true extent of lesion which is underestimated on XR

[image]

 

Tx: high dose PRE-OPERATIVE chemotherapy- most respond well; followed by wide surgical resection; +/- post-op chemo

 

-histologic grade of response to pre-op chemo:

-Huvos grading system

-Grade 1: <50% necrotic

-Grade 2: most of tumor necrotic

-grade 3: 90-99% necrotic

-grade 4: (best prognosis): totally, 100% necrotic

 

*best predictor of prognosis: response to pre-op chemo:

>90%= good

<90%= poor

Term

ASCP BONE

 

What is lesion?

[image]

-benign or malignant?; rad features, histology

Definition

ANSWER: Parosteal osteosarcoma

 

-malignant, but one of the few low-grade subtypes of osteosarcoma (together with low-grade central osteosarcoma- rare)

 

-represents 4% of all osteosarcs; young adults

-Distal femur> prox tibia> prox humerus

 

*most common site- posterior cortex of distal femoral metaphysis

 

*tx- wide resection WITHOUT chemotherapy

 

-Rad- heavily mineralized, mass with broad base attached to underlying cortex (as opposed to osteochondroma- is not continuous with medullary cavity

[image]

 

Histology:

-well-formed LONG trabeculae; spindle cell stroma with minimal atypia

-cartilaginous differentiation common, may even have cartilage cap (like osteochondroma)

- 15% contain area of high-grade sarcoma (dedifferentiated parosteal osteosarc)

Term

ASCP BONE

 

what type of malignant bone tumor is this?

[image]

-based on location of bone growth; Rad fx; most common histologic type

Definition

ANSWER: Periosteal Osteosarcoma

 

-most commonly are of a chondroblastic subtype

-moderately differentiated; *grows on the SURFACE of bone

[image]

 

-uncommon, 1.5% of osteosarcs

-found in children and adolescents

 

-common sites: diaphysis (or metadiaphysis) of femur and tibia

Term

ASCP BONE

 

Describe histologic features, congenital syndromes a/w, and common site of this lesion:

[image]

Definition

ANSWER: Fibrous dysplasia

 

-usually monostotic (80%), may be polyostotic (20%)

-de novo/non-familial cases due to somatic mutation in GNAS1

 

-most are <30 yo

-most common site is femoral neck

-1/3 in craniofacial bones

-1/3 in femur or tibia

-~20% in ribs

 

Familial syndromes:

  • McCune-Albright syndrome: =3% of FD pts;  polyostotic fibrous dysplasia; cafe-au-lait pigmentation; endocrinopathies
  • Mazabraud's- veyr rare; fibrous dysplasia and soft tissue myxomas

Rad: benign appearing, well-defined, sclerotic rim, hazy mineralization= "ground glass" 

-bowing deformity in long bones; +/- path fractures

[image]

 

 

gross- usually solid, tan-white filling medullary cavity; MAY be cystic with hemorrhage

[image]

 

Histology: Irregular spicules of woven bone ("chinese characters"); embedded in bland spindle cells

-may have foam cells, myxoid change, fibrosis

 

Tx: observation; currettage is symptomatic

Term

ASCP BONE

 

what are the characteristic Radiographic features; alternate name; location and histologic features of this bone lesion

[image]

Definition

ANSWER: Metaphyseal fibrous defect

 

-formerly known as: non-ossifying fibroma

 

-hypercellular fibrogenic stroma, with bland nuclei and MNGCs; plump spindle cells in storiform pattern, looks like a fibrohistiocytic lesion

[image]

 

-Rad: metaphyseal, eccentric

-trabeculated, with sclerotic rim; well-circumscribed; often Dx'd on XR alone

-may have path fracture

[image]

 

-80% in distal femur, distal or prox tibia

 

-present in children and adults

Term

ASCP BONE

 

-this lesion is the 4th most common primary bone tumor; commonly in the pelvic girdle and lower extremities

[image]

Definition

ANSWER:Ewing's sarcoma

 

-small round blue cell tumor

 

-4th most common primary bone tumor; male predilection

-75% in first 2 decades 

 

-most in pelvic girdle and LE

-femur>ilium>fibula

 

-Rad: permeative,destructive, poorly defined

-characteristic "onion skin" appearance- due to lifting off of periosteum

[image]

-diaphysis or metaphysis- can involve full length or long segments of bone by filling up the marrow spaces (similar to lymphoma)

 

-consists of sheets of small round blue cells; clear-indistinct cytoplasm

-a small % have anaplasia

-with prominent rosette formation--> PNET (maturation)

 

-IHC:

-CD99+- sensitive, but NOT specific

-CK's + in 32%

-FLI-1+ (also helpful)

 

Molecular:

-most commonly= t(11;22)(q24;q12)= FLI-1:EWS

 

alternate: t(12;22)(q22;q12)- ERG:EWS

 

Tx with neoadj chemo +wide resection and adjuvant chemo +/-radiation

-as with osteosarc, degree of response (necrosis) to neoadj chemo= predictor of survival

Term

ASCP BONE

 

Poor prognostic factors of Ewing's

Definition

-Older age (>17 yo)

-pelvic tumor (difficult to remove)

-large tumor size (>8 cm)

- metastatic disease

Term

ASCP BONE

 

What are the 3 main primary bone tumors that predominantly originate at the very end/epiphysis of long bones?

Definition

-Chondroblastoma

-Clear cell chondrosarcoma

-Giant cell tumor of bone

Term

ASCP BONE

 

What is the lesion?

benign/malignant?, Rad findings, histologic features

[image]

Definition

ANSWER: Giant Cell Tumor (of bone)

 

-benign, may be locally aggressive

-relatively common (=20% of benign bone tumors)

 

-most are solitary; -mc in 3rd to 5th decade (rare in children)

-Female predilection*

-**mc in end/epiphysis of long bones:

-distal femur> prox tibia> distal radius> sacrum

*and in spine- prefers anterior elements (=body)

 

-Rad: eccentric, purely lytic, at end of bone; with cortical destruction, and may have soft tissue mass with shell of bone, sclerotic rim

-25% look aggressive/malignant

[image][image]

 

Gross- classic red-brown +/- degenerative changes, extends to end of bone without further destruction (vs malignant tumors continue to grow through surrounding soft tissue)

-Commonly shelled out in morcellated pieces

[image]

 

-Histology: NUMEROUS MNGCs, scattered within a monotonous, mononuclear ovoid to spindle stroma with pink cytoplasm,

*the stroma nuclei look identical to the MNGC nuclei

-+mitoses, +/- foam cells, reactive new bone

-prominent spindle areas may look like metaphyseal fibrous defect (non-ossifying fibroma) ; may also look like ABC on bx

[image][image]

Term

ASCP BONE

 

Multicystic lesion in bone, with fluid-levels, histology looks like:

[image]

Definition

ANSWER: Aneurysmal Bone Cyst (ABC)

 

-may arise primary or secondarily adjacent/in other tumors- predominantly chondroblastoma and giant cell tumor

 

-most common in 1-2 decade, younger patients

-metaphysis, of distal femur or prox tibia (knee)

-when in spine- prefers posterior/dorsal elements

 

Rad: lucency in metaphysis, with fluid-fluid levels (layers) on CT and MR

[image][image]

 

-Gross- red brown, solid or cystic; usually comes in pieces or just bx

 

-Histology: multiple cystic spaces separated by septa; with occassional solid patter

-fibrous septa- spindle cells without atypia; +mitoses, +MNGCs; NO endothelial lining the cystic spaces (vs telangiectatic osteosarc);

-solid areas may have osteoid and reactive woven bone +/- calcifications

[image][image]

 

DDx:

  • Telangiectatic osteosarcoma- has striking cytologic atypia
  • Giant cell tumor- has NUMEROUS MNGCs
  • low-grade osteosarcoma- usually not cystic

Tx- curettage

 

Term

ASCP BONE

 

medullary bone lesion with thinned but intact cortex and trabeculation, histology looks like:

[image][image]

Definition

ANSWER: Unicameral Bone Cyst

 

- simple cyst

-most in 1-2 decade

- present with pathologic fractures commonly

-mc sites= proximal humerus and prox femur

 

-Rad: located centrally within medullary cavity, abutting epiphyseal plate- *NO wider than epiphyseal plate (simialr to ABC); thinned, but intact cortex; with trabeculation

[image]

 

-Histology:

-loose, hypocellular fibrous stroma, bland spindle cells with fragments of bone (less cellular than ABC)

*irregular masses of degenerating fibrin, may calcify

[image][image]

 

Tx- most are aspirated and injected with steroids; may be curetted

Term

ASCP BONE

 

midline bone tumor at base of skull; destructive, identified on MRI; looks like

[image]

Definition

ANSWER: Chordoma

 

-malignant tumor, arises from notochord remnants

-uncommon (6% of malignant bone tumors)

-M:F=2:1

-older pts- 5-7th decades

 

-Sites: sacrum (50%)> base of skull (37%) > mobile spine (13%)

 

-Rad- difficult to see on XR, need CT/MR to identify- which have aggressive appearance, lytic and destructive

 

Gross: lobulated, shiny, mucoid

-gray-tan, red-brown, glistening

[image]

 

-Histology- lobules of mucoid material with cords and nests of tumor cells separated by fibrous septa

-cells with round nuclei and central nucleoli

-scattered cells with intracytopasmic vacuoles (=physaliphorous cells)

[image][image]

 

IHC: Keratins +

-EMA+; Brachyury+ (negative in carcinomas- to differentiate from metastatic dz)

Term

ASCP BONE

 

what are the 4 main originating sites for metastatic tumors to bone in adults

 

-what common childhood tumors metastasize to bone

 

Definition

Adults

  • Lung
  • Kidney
  • Breast
  • Prostate

Children

  • neuroblastoma, Wilm's tumor, Osteogenic sarcoma (OGS, aka osteosarcoma)- met from another bone site, Ewing's, rhabdomyosarcoma

Rad fx:

most are lytic: kidney, GI, thyroid, melanoma

-Blastic= prostate

-both blastic and lytic- lung and breast

 

 

Term

LEFKOWITCH BONE

 

what is the dx?

[image][image]

Definition

ANSWER: Myxoid chondrosarcoma

 

-uncommon, ST or bone, monotonous proliferation of uniform, small cells with deep pink cytoplasm, in sheets and cords in abundant myxoid matrix

 

-slowly progressive, BUT high incidence of late recurrences and metastases.

 

Tx with wide local resection

Term

LEFKOWITCH BONE

 

what is this biphasic lesion?

[image][image]

Definition

ANSWER: Mesenchymal chondrosarcoma

 

-biphasic pattern, with hemangiopericytoma-like vasculature, and areas with PINK chondroid matrix; with immature, small cells

 

-Aggressive, highly malignant; local recurrences and high metastatic rate

-jaw bones of young adults

Term

LEFKOWITCH BONE

 

what is this lesion?

[image]

Definition

ANSWER: Ossifying fibroma

 

-immature trabeculae, rimmed by osteoblasts, assoc w/ calcified spherules

 

-benign, slow growing; typically mandible

-3rd-4th decades

 

-*Variant: Juvenile ossifying fibroma- younger pts; has more potential for aggressive local growth and recurrence

Term

LEFKOWITCH BONE

 

12 yr old boy, normal serum Ca and Phos levels, large expansile lesion in right mandible

[image][image]

Definition

ANSWER: Giant cell reparative granuloma

 

-Now= reparative granuloma

 

-benign, reactive

-fibroblastic/collagenous stroma with small hemorhagic cysts; and scatt lymphs and MNGCs; a/w reactive new bone formation

 

-likely related to ABC

 

DDx:  Giant cell tumor of bone- numerous GCs evenly distributed

 

Brown tumor of hyperparathyroidism: biochemistry profile- alterations of Ca and phos

Term

LEFKOWITCH BONE

 

Avascular necrosis-

common causes of idiopathic

Definition

two basic types-

(1) post-traumatic- a late consequence of fracture

 

(2) idiopathis- usually assoc w/ long-term steroid therapy, certain occupations (=deep sea divers, Caisson workers), hemoglobinopathies (esp SS), EtOH abuse, rarely- Gaucher's dz

Term

LEFKOWITCH BONE

 

What is the lesion

[image][image]

Definition

ANSWER: Paget's disease of bone

 

-waves of osteoclastic bone resorption, followed by new bone formation--> irregular patches of lamellar bonewith scalloped margins, and prominent cement lines forming a mosaic pattern

[image]

 

-disordered, accelerated bone turnover

-may be monostotic or polyostotic

-present with chalkstick fx of long bones (transverse)

 

-in polyostotic forms- pts have high serum alkaline phosphatase (high alk phos) and normal Ca and phos

Term

LEFKOWITCH BONE

 

What are characteristic features of this lesion?

[image][image]

Definition

LESION ANSWER: Adamantinoma

 

-almost exclusively involves tibia (most freq) and fibula

 

-a rare, low-grade malignant bone tumor, located intracortically in diaphysis of tibia

 

-biphasic, common histologic variants- spindle, basaloid, tubular, squamous

[image]=basaloid

 

indolent, but can metastasize (up to 25% in poorly treated)--> lungs, LNs

Term

LEFKOWITCH BONE

 

Osteomyelitis-

 

most common organisms in adults and children?

-histology

Definition

The #1 most common organism (esp in children) is Staph aureus


-E. coli, Pseudomonas and Klebsiella are other's- usually secondary to UTI.

-spread hematogenously (more common in young) and by direct penetration (more common in adults)


-Histology: acute inflammation, with abscess formation, bone and BM necrosis

-long bones more commonly involved.

Term

LEFKOWITCH BONE

 

what is the lesion?

-typical staining pattern and histologic features

[image][image]

Definition

ANSWER: Langerhans Cell Histiocytosis

 

-neoplastic proliferation of large specialized dendritic cells, mixed with lymphs, eos, neuts and pc's.

-large histiocyte with abundant cytoplasm and *longitudinal nuclear groove ("coffee bean")

[image]

 

 formerly known as eosinophilic granuloma

 

-S-100 and CD1a +

-neg for CD45 and CD68

-EM: Bribeck granule= racket-shaped

[image]

Term

LEFKOWITCH BONE

 

what is the most likely diagnosis, and primary ddx

[image][image]

Definition

ANSWER: Rheumatoid synovitis

 

DDx:

-Lyme disease

-Systemic lupus erythematosus

-psoriatic arthritis

 

=synovial villous formation and hyperplasia/hypertrophy, fibrinoid necrosis, chronic inflammation in vascularized stroma; nodules of lymphs surrounded by plasma cells (=more likely RA)

Term

LEFKOWITCH BONE

 

what is this lesion

-benign or malignant?

[image]

Definition

ANSWER: Pigmented Villonodular Synovitis (PVNS)

 

-proliferative, non-neoplastic lesion, benign- but can cause erosion of adjacent bones

 

-Sx: pain and swelling

-Intraoperatively- rusty-brown joint fluid and synovial surfaces

 

-Histology: villous projections of synovial surface with hypertrophy and hyperplasia; and cells heavily laden with hemosiderin pigment; +giant cells filled with pigment

[image]

Term

LEFKOWITCH BONE

 

what is the lesion?

-it's associated disease and histologic features

[image]

Definition

ANSWER: Rheumatoid nodule

 

-fibrinoid necrosis surrounding by palisading histiocytes; surrounding tissue with minimal inflammatory cells

 

-nodules commonly occur on the extensor surfaces of extremities, after a bout of symmetri arthritis (RA)

 

-Granuloma anulare, of the skin, usually in children, is of similar histology, but is not associated with joint/arthritis

Term

LEFKOWITCH BONE

 

What common genetic abnormalities are associated with osteosarcoma?

Definition

 

-germline mutation of 13q14= Rb gene- gives 500X risk of osteosarc (and pts have retinoblastoma)

 

-single mutation of 13q14 with "second hit"- osteosarc, +/- retinoblastoma

 

-Amplification of MDM2, with inactivation of p53

-LOH at chr 3, 7, 18

Term

LEFKOWITCH BONE

 

Describe Maffucci's syndrome

Definition

-cavernous hemangiomas- which may thrombose and calcify, located in skin and ST- overlying enchondromas

 

-increased risk of chondrosarcoma (as well as tumors of brain and ovaries)

Term

LEFKOWITCH BONE

 

describe McCune-Albright syndrome

Definition
polyostotic fibrous dysplasia, skin pigmentation (cafe-au-lait spots), and endocrine abnormalities (pituitary hyperplasia, hyperthyroidism, adrenal hyperplasia and precocious puberty)
Term

LEFKOWITCH BONE

 

what syndrome does this describe?

-fibrous dysplasia and myxomas of soft tissue

Definition
ANSWER: Mazabraud's syndrome
Term

LEFKOWITCH BONE

 

what is the syndrome?

-multiple skeletal metastases in neuroblastoma

Definition

-ANSWER: Hutchison's syndrome

 

-Pepper's syndrome- is predom. liver mets in neuroblastoma

Term

LEFKOWITCH BONE

 

what is this lesion on the synovial surface

[image]

-characteristic histologic feature?

-what suggests malignancy?

Definition

ANSWER: Synovial chondromatosis

 

-benign, proliferation of cartilage nodules in and on synovium

-with characteristic clustering of chondrocytes at the periphery of nodules

 

-having more diffuse, uniform, oval or spindle shaped small cells- suggests malignant transformation- also necrosis, cyst formation, and nuclear atypia

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