The translocation t(11;22)(q24;q12) resulting in EWS-FLI1 fusion gene is pathognomonic of:
- A Osteosarcoma
- B Ewing sarcoma ✓
- C Chondrosarcoma
- D Synovial sarcoma
Correct answer: B. Ewing sarcoma
Explanation
Ewing sarcoma is characterised by the t(11;22)(q24;q12) translocation in ~85% of cases, creating the EWS-FLI1 fusion oncogene. This can be detected by RT-PCR or FISH and is diagnostically confirmatory. Remaining cases show EWS fusions with other ETS family genes (EWS-ERG in ~10%). Synovial sarcoma has t(X;18) producing SYT-SSX; osteosarcoma has no consistent translocation (complex karyotype); chondrosarcoma is associated with IDH1/IDH2 mutations in central types.
Reference: Maheshwari Essential Orthopaedics, 6th ed.
High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP
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