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Pathology · Soft tissue: well-differentiated liposarcoma
Sample itemA 60-year-old man has a 25 cm retroperitoneal fatty mass. Histology shows mature adipocytes of varying size with atypical hyperchromatic stromal cells and occasional lipoblasts. Which genetic alteration is expected in this well-differentiated tumour?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
A. MDM2 amplification on chromosome 12q13-15
Well-differentiated and dedifferentiated liposarcomas carry ring or giant marker chromosomes amplifying 12q13-15, which includes MDM2 and CDK4. MDM2 degrades p53, so its amplification removes p53 function. MDM2 immunostaining or FISH helps to distinguish the tumour from a benign lipoma.
Option by option
A. MDM2 amplification on chromosome 12q13-15 (correct)
Correct. MDM2 amplification characterises these liposarcomas.
B. t(X;18) producing SS18-SSX fusion
SS18-SSX arises from t(X;18) in synovial sarcoma.
C. t(11;22) producing EWSR1-FLI1 fusion
EWSR1-FLI1 from t(11;22) characterises Ewing sarcoma.
D. t(2;13) producing PAX3-FOXO1 fusion
PAX3-FOXO1 from t(2;13) characterises alveolar rhabdomyosarcoma.
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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