Term
| MEN IIa: Associations and Alternate Name |
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Definition
Sipple's Syndrome
Parathyroid Adenoma
Adrenal Pheochromocytoma
Thyroid Medullary Carcinoma
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Term
Carney Complex:
Gene and Location |
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Definition
•PRKAR1A on 17q24 (also an unknown gene at 2p16)
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Term
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Definition
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Term
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Definition
Large Cell Calcifying Sertoli Cell Tumor
Seen in Carney's Syndrome and Peutz-Jehger Syndrome |
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Term
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Definition
| Primary Pigmented Nodular Adrenal Cortical Disease |
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Term
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Definition
| Gastric GIST's, Extra-adrenal paragangliomas, and Pulmonary Chondroma |
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Term
Gorlin Syndrome
Other Name and Findings |
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Definition
Nevoid Basal Cell Carcinoma Syndrome
Multiple BCC's, Odontogenic Keratocysts, Calcification of Falx Cerebri, Palmoplantar Pits, increased rate of medulloblastoma |
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Term
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Definition
Odontogenic Keratocyst
Associated with Gorlin Syndrome |
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Term
Cowden Syndrome:
Findings |
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Definition
Hamartomatous Intestinal Polyps, Multiple Lipomas, Fibromas, Genitourinary Malformations, Mucocutaneous Lesions (Facial trichoepitheliomas, papillomas, palmoplantar keratoses, palmoplantar hyperkeratotic pits)
Also Microcephaly/Cerebellar Dysplastic Gangliocytoma
Increased risk of malignancy of breast, thyroid (follicular), colon, endometrium |
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Term
What is Lhermitte-Duclos Disease?
Associated with what syndrome? |
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Definition
Cerebellar Dysplastic Gangliocytoma
associated with
Cowden Syndrome |
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Term
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Definition
Lhermitte Duclos Disease
(Cerebellar Dysplastic Gangliocytoma)
Low Magnification at transition: The cerebellar folia on the left is normal and in the right is the area affected by LDD (arrow). Note the thickening of the area and the rather random distribution of the large, ganglionic cells.. |
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Term
| Cowden Disease: Gene and location |
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Definition
| PTEN gene, located at 10q23 |
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Term
| What does PTEN gene encode? |
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Definition
| Phosphatidylinositol-3,4,5-triphosphate 3-phosphatase |
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Term
| What syndromes are associated with PTEN mutations? |
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Definition
Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome, and Proteus Syndrome
All form hamartomatous lesions |
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Term
| What is Bannayan-Riley-Ruvalcaba syndrome? |
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Definition
| high birth weight with macrocephaly, metal retardation, myopathy, joint hypermobility, pectus excavatum, hamartomatous intestinal polyps, lipomas, and pigmented macules of glans penis |
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Term
What is Proteus syndrome?
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Definition
Unfortunately, has nothing to do with the bacteria.
Highly variable and often mosaics.
connective tissue nevi (pathognomonic), asymmetric limb growth, skull hyperostosis, megaspondylodysplasia of the vertebrae, visceral overgrowth (spleen, thymus) |
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Term
Gene causing MEN IIa and which exon is mutated?
Which chromosome? |
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Definition
RET gene on 10q
MENIIa is associated with mutations the cysteine at position 634 in exons 10-11 |
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Term
| Sydromes associated with RET gene mutations |
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Definition
| MEN IIa, MEN IIb, Familial Medullary Thyroid Carcinoma |
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Term
| Associations with MEN IIb (aka MEN III) |
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Definition
| Parathyroid adenoma, Pheochromocytoma, Thyroid Medullary Carcinoma, Mucosal Ganglioneuromas, Marfanoid body habitus |
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Term
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Definition
RET gene on 10 q
Specifically, exon 16, a tyrosine kinase domain |
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Term
| Gene Mutation in Familial Medullary Thyroid Carcinoma |
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Definition
RET gene on 10q
(Specifically, cyteine residues on 609, 611, 618, and 620) |
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Term
| Name diseases frequently associated with RET mutations |
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Definition
Hirschsprung disease (20% show germline or sporadic mutations)
Sporadic Papillary Thyroid Carcinoma (40% have somatic)
MEN 2a, MEN 2b, Fam. Medullary Thy. Carcinoma |
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Term
Tuberous Sclerosis:
Another name for it? |
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Definition
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Term
| Inheritance of Tuberous Sclerosis |
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Definition
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Term
Tuberous Sclerosis:
Findings |
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Definition
Numerous Tumors (mostly benign)
Angiofibromas of skin, periungal fibromas, shagreen patches, hypopigmented macules, cardiac rhabdomyomas, pulmonary lymphangioleiomyomatosis (LAM), Subependymal giant cell astrocytomas, renal angiomyolipomas, and increased risk of renal neoplasms (including Clear cell carcinoma and oncocytoma)
Also subependymal nodules in caudate |
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Term
| Tuberous sclerosis: genes and chromosomes |
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Definition
80% by TSC1 gene (chromosome 9q34)-protein hamartin
20% by TSC2 gene (chromosome 16p13)--protein tuberin |
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Term
| Name 4 Syndromes associated with Renal Cell Carcinoma |
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Definition
| Von Hippel-Lindau, Birt-Hogg-Dube, Familial Clear Cell Renal Cell Carcinoma, Hereditary Papillary Renal Cell Carcinoma |
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Term
Von Hippel-Lindau Disease:
Inheritance |
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Definition
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Term
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Definition
| High risk for hemangioblastoma (cerebellar, cerebral, or retinal), pheochromocytoma, renal cell carcinoma, pancreatic cysts, islet cell tumors, epidymal/broad ligament cystadenomas, tumors of the endolymphatic sac of the inner ear. |
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Term
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Definition
| 70%, typically at young age with multifocal/bilateral disease |
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Term
| Type of RCC found in VHL (behavior?) |
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Definition
| Clear cell, but are more indolent with later mets |
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Term
VHL: genes
Presence in sporadic RCC?
Difference genetic profile of VHL vs RCC
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Definition
VHL gene on chromosome 3p
Sporadic CCRCC commonly has deletion/alteration of 3p
VHL is from a germline mutation in one VHL, then tumorigenesis happens when a "second hit" is acquired in other copy |
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Term
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Definition
Syndrome with everything except pheochromocytoma.
Caused by major loss of function mutations (deletion or missense) |
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Term
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Definition
| Syndrome form with high risk for pheo. Caused by minor loss-of-function mutations (missense). |
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