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Ewing Sarcoma
Published in Dongyou Liu, Tumors and Cancers, 2017
Ewing sarcoma is shown to contain chromosomal translocation of EWS-ETS t(11;22) (q24;q12) (in 85% of cases), EWS-ERG t(21;22)(q22;q12) (in 10% of cases), EWS-ETV t(7;22)(p22;q12) and t(17;22)(q12;q12), and EWS-FEV t(2;22)(q35;q12), as well as TLS-ERG t(16;21)(p11;q22) and TLS-FEV t(2;16)(q35;p11). In addition, patients often harbor the Ewing sarcoma susceptibility gene (EGR2), located within the chromosome 10 susceptibility locus (10q21.3), which is regulated by the EWSR1 (Ewing sarcoma breakpoint region 1 of the TET family on chromosome 22)-FLI1 (friend leukemia insertion of the ETS family on chromosome 11) fusion oncogene via a GGAA microsatellite. Additional numerical and structural aberrations in Ewing sarcoma include gains of chromosomes 2, 5, 8, 9, 12, and 15; the nonreciprocal translocation t(1;16)(q12;q11.2); deletions on the short arm of chromosome 6; and trisomy 20. Further, STAG2 mutations are observed in 15%–20% of the cases, CDKN2A deletions in 12%–22% of cases, TP53 mutations in 6%–7% of cases, and intrachromosomal X-fusion in 4% of cases, leading to altered BCOR (encoding the BCL6 corepressor) and CCNB3 (encoding the testis-specific cyclin B3). In contrast, small, round, blue cell tumors of bone and soft tissue do not have rearrangements of the EWSR1 gene [2].
Alveolar soft tissue sarcoma: a report of 50 cases at a single institution
Published in Acta Chirurgica Belgica, 2023
Pengyuan Zhao, Huixiang Li, Huayan Ren
Cytogenetically, ASPS is characterized by an unbalanced nonreciprocal translocation between chromosomes X and 17, namely, t (X; 17) (p11.2; q25), which leads to the ASPSCR1-TFE3 fusion gene. The identification of this transcriptional fusion gene by RT-PCR and protein by immunohistochemistry provides a valuable diagnostic tool for ASPS [12,13].