Human pathology

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clear cell sarcoma of soft tissues

soft parts melanoma, melanoma of soft parts, clear cell sarcoma of tendons and aponeuroses, clear cell sarcoma of soft tissues

Localization

- tendon and aponevrose
- bone
- digestive system (17000668)

Cytogenetics

- t(12;22)(q13;q12) causing a fusion of the EWSR1 and ATF1 genes

Molecular biology

- EWSR1/ATF1 fusion transcript by t(12;22)(q13;q12)
- EWSR1/CREB1 fusion transcript by a t(12;22) (17000668)

Expression profiling: 15150091

Differential diagnosis

- clear cell sarcomas

References

- Antonescu CR, Nafa K, Segal NH, Dal Cin P, Ladanyi M. EWS-CREB1: a recurrent variant fusion in clear cell sarcoma?association with gastrointestinal location and absence of melanocytic differentiation. Clin Cancer Res. 2006 Sep 15;12(18):5356-62. PMID: 17000668