Pathology · Neoplasia (Classification, Carcinogenesis, Tumor Markers, Paraneoplastic)

A soft tissue tumor from the thigh of a 30-year-old shows a characteristic t(X;18)(p11;q11) chromosomal translocation. This genetic alteration is diagnostic of:

  • A Ewing sarcoma
  • B Synovial sarcoma
  • C Dermatofibrosarcoma protuberans
  • D Alveolar rhabdomyosarcoma
Correct answer: B. Synovial sarcoma

Explanation

The t(X;18) translocation fusing SS18 with SSX genes is pathognomonic for synovial sarcoma. Ewing sarcoma harbors t(11;22) generating EWSR1-FLI1. Dermatofibrosarcoma protuberans has t(17;22) fusing COL1A1 with PDGFB. Alveolar rhabdomyosarcoma has t(2;13) or t(1;13) involving PAX3/7 and FOXO1.

Reference: Robbins and Cotran Pathologic Basis of Disease, 10th ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

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