Question:
A 40-year-old person presented with a 10 x 8 cm swelling in the retroperitoneum. The biopsy from the lesion is as shown below. Molecular analysis demonstrated t(12;16). The most probable diagnosis is?
A 40-year-old person presented with a 10 x 8 cm swelling in the retroperitoneum. The biopsy from the lesion is as shown below. Molecular analysis demonstrated t(12;16). The most probable diagnosis is?
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Match the translocation: t(12;16) belongs to one specific soft tissue sarcoma.
Updated On: Jun 23, 2026
- Myxoid liposarcoma
- Lipoma
- Synovial sarcoma
- Pleomorphic sarcoma
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The Correct Option is A
Solution and Explanation
Step 1: The single most useful clue is the cytogenetics. The translocation t(12;16)(q13;p11), which fuses FUS (TLS) with DDIT3 (CHOP), is the defining molecular signature of myxoid liposarcoma.
Step 2: The histology fits: monomorphic fusiform to stellate primitive mesenchymal cells dispersed in an abundant myxoid (mucopolysaccharide-rich) matrix, with a delicate branching chicken-wire capillary network and scattered signet-ring lipoblasts.
Step 3: Eliminate the rest: lipoma is benign mature fat with no atypia and no specific translocation, synovial sarcoma carries t(X;18) (SS18-SSX), and pleomorphic sarcoma shows marked nuclear pleomorphism without this fusion. A retroperitoneal myxoid tumour with t(12;16) is myxoid liposarcoma.
Answer: Myxoid liposarcoma.
Ref: Robbins Basic Pathology, p 792.
Step 2: The histology fits: monomorphic fusiform to stellate primitive mesenchymal cells dispersed in an abundant myxoid (mucopolysaccharide-rich) matrix, with a delicate branching chicken-wire capillary network and scattered signet-ring lipoblasts.
Step 3: Eliminate the rest: lipoma is benign mature fat with no atypia and no specific translocation, synovial sarcoma carries t(X;18) (SS18-SSX), and pleomorphic sarcoma shows marked nuclear pleomorphism without this fusion. A retroperitoneal myxoid tumour with t(12;16) is myxoid liposarcoma.
Answer: Myxoid liposarcoma.
Ref: Robbins Basic Pathology, p 792.
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