Cytogenetic abnormalities Flashcards
endometrial stromal sarcoma
t(7;17), JAZF1-JJAZ1
alveolar RMS
t(2;13) PAX3-FOXO1
t(1;13) PAX7-FOXO1
angiomatoid fibrous histiocytoma
t(12;22) EWSR1-ATF1
t(2;22) EWSR1-CREB1
t(12;16) FUS-ATF1
alveolar soft part sarcoma
der(17)t(X;17) ASPL-TFE3 fusion
ALT/WDLPS
supernumerary ring and or marker chromosomes with amplification of 12q14-q15; Amplification of MDM2,CDK4, HMGA2 genes
clear cell sarcoma of soft parts
t(12;22) EWSR1-ATF1
t(2;22) EWSR1-CREB1
congenital infantile fibrosarcoma
t(12;15) ETV6-NTRK3
Dedifferentiated LS
supernumerary ring and/or marker chromosomes with amplification of 12q14-q15; amplification of MDM2, CDK4, HMGA2 genes
desmoid fibromatosis
trisomy 8 or 20; loss of 5q, somatic CTNNB1 or APC mutations in deep tumours
DFSP/giant cell fibroblastoma
t(17;22) EWSR1-WT1 fusion
desmoplastic small round cell tumour
t(11;22); EWSR1-WT1 fusion
elastofibroma
1q abnormalities
embryonal RMS
LOH at 11p25
gains at 2, 7, 8, 11, 12, 20, 21, 13q21, 20
loss at 1p35-p36.6, 7, 6, 9q22, 14q-21-32, 17
epithelioid hemangioendothelioma
t(1;3); WWTR1-CAMTA1 fusion
epithelioid sarcoma, proximal type
alterations of 22q11.2; biallelic inactivation of hSNF5/INI1