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Molecular - soft tissue neoplasms
characteristic cytogx for tumors
21
Pathology
Post-Graduate
09/01/2010

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Cards

Term
Alveolar soft part sarcoma
Definition
t(X;17)(p11;q25)
TFE3-ASPL fusion
Term
Aneurysmal bone cyst
Definition
t(16;17)q22;p13)
CDH11-USP6 fusion
Term
Angiomatoid fibrous histiocytoma
Definition
t(12;16)(q13;p11)-- FUS-ATF1 fusion
t(12;22)(q13;q12)-- EWSR1-ATF1 fusion
t(2;22)(q33;q12)-- EWSR1-CREB1 fusion
Term
Extraskeletal myxoid chondrosarcoma
Definition
t(9;22)(q22;q12)-- EWS-NR4A3 fusion
t(9;17)(q22;q11)-- TAF2N-NR4A3 fusion
t(9;15)(q22;q21)-- TCF12-NR4A3 fusion
Term
Clear cell sarcoma
Definition
t(12;22)(q13;q12)-- EWSR1-ATF1 fusion
t(2;22(q33;q12) -- EWSR1-CREB1 fusion
Term
Desmoplastic small round cell tumor
Definition
t(11;22)(p13;q12)-- EWSR1-WT1 fusion
Term
Dermatofibrosarcoma protuberans
Definition
Ring form of chromosomes 17 and 22 -- COL1A1-PDGFB fusion
t(17;22)(q21;q13)-- COL1A1-PDGFB fusion
Term
Ewing sarcoma/PNET
Definition
t(11;22)(q24;q12)-- EWSR1-FLI1 fusion
t(21;22)(q12;q12)-- EWSR1-ERG fusion
t(2;22)(q33;q12)-- EWSR1-FEV fusion
t(7;22)(p22;q12)-- EWSR1-ETV1 fusion
t(17;22)(q12;q12)-- EWSR1-E1AF fusion
inv(22)(q12q12) -- EWSR1-ZSG fusion
t(16;21)(p11;q22)-- FUS-ERG fusion
Term
Fibrosarcoma, infantile
Definition
t(12;15)(p13;q26)-- ETV6-NTRK3 fusion
Trisomies 8, 11, 17, and 20
Term
Inflammatory myofibroblastic tumor
Definition
t(1;2)(q22;p23) TPM3-ALK fusion
t(2;19)(p23;p13) TPM4-ALK fusion
t(2;17)(p23;q23) CLTC-ALK fusion
t(2;2)(p23;q13) RANB2-ALK fusion
Term
Leiomyosarcoma
Definition
Complex with frequent deletion of 1p
Term
Liposarcoma, Well-differentiated
Definition
Ring form of chromosome 12 -- amplification of MDM2, CDK4, and others
Term
Liposarcoma, Myxoid/Round cell
Definition
t(12;16)(q13;p11) TLS-DDIT3 fusion
t(12;22)(q13;q12) EWSR1-DDIT3 fusion
Term
Liposarcoma, Pleomorphic
Definition
Complex
Term
Low-grade fibromyxoid sarcoma
Definition
t(7;16)(q33;p11) FUS-CREB3L2 fusion
Term
Malignant peripheral nerve sheath tumor
Definition
Complex
Term
Myxofibrosarcoma (myxoid MFH)
Definition
Ring form of chromosome 12
Term
Rhabdoid tumor
Definition
Deletion of 22q -- INI1 inactivation
Term
Rhabdomyosarcoma, Alveolar
Definition
t(2;13)(q35;q14)-- PAX3-FOXO1A fusion
t(1;13)(p36;q14), double minutes -- PAX7-FOXO1A fusion
t(2 ;2)(q35 ;p23)-- PAX3-NCOA1 fusion
PAX3-AFX fusion
Term
Rhabdomyosarcoma, Embryonal
Definition
Trisomies 2q, 8 and 20
Loss of heterozygosity at 11p15
Term
Synovial sarcoma, Monophasic and Biphasic
Definition
SS18-SSX1, SS18-SSX2 or SS18-SSX4 fusion
Predominantly SS18-SSX1 fusion
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