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Orthopaedics · Bone tumours: MDM2 in well-differentiated liposarcoma
Sample itemA 60-year-old has a large, deep, painless thigh mass that is mostly mature fat with thick septa and nodular non-fatty areas on MRI. To distinguish a well-differentiated liposarcoma from a lipoma, which molecular test is most useful?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
A. MDM2 amplification by FISH
Well-differentiated liposarcoma carries amplification of MDM2 (with CDK4) on chromosome 12q13-15, which is absent in lipoma. Deep location and thick septa raise suspicion. FUS-DDIT3 marks myxoid liposarcoma, SS18-SSX marks synovial sarcoma, and EWSR1-FLI1 marks Ewing sarcoma.
Option by option
A. MDM2 amplification by FISH (correct)
Correct. MDM2 amplification confirms an atypical lipomatous tumour or well-differentiated liposarcoma.
B. EWSR1-FLI1 fusion
EWSR1-FLI1 is the translocation of Ewing sarcoma.
C. SS18-SSX fusion
SS18-SSX is the translocation of synovial sarcoma.
D. FUS-DDIT3 fusion
FUS-DDIT3 is the translocation of myxoid liposarcoma.
Source note: Original NextPrep sample item — pending expert review. This item is original practice material awaiting independent expert review, so confirm important facts in a standard textbook.
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