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Orthopaedics · Bone tumours: aneurysmal bone cyst
Sample itemMRI of a vertebral lesion shows multiple cystic spaces with fluid-fluid levels in a 12-year-old. Which gene rearrangement is commonly present in primary lesions of this type?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
D. USP6 rearrangement
Aneurysmal bone cyst is an expansile blood-filled cystic lesion with fluid-fluid levels due to haemorrhage. Primary lesions harbour USP6 translocations, indicating they are neoplastic. Treatment is curettage with grafting, with embolisation or sclerotherapy options.
Option by option
A. SS18-SSX fusion
SS18-SSX is the synovial sarcoma fusion.
B. EWSR1-FLI1 fusion
EWSR1-FLI1 is the Ewing sarcoma fusion.
C. IDH1 mutation
IDH1 mutations occur in enchondroma and chondrosarcoma.
D. USP6 rearrangement (correct)
Correct. USP6 rearrangement is characteristic of primary ABC.
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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