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Pathology · Neoplasia: desmoid tumour and APC
Sample itemA man with familial adenomatous polyposis who underwent colectomy develops a firm infiltrating abdominal wall mass. Biopsy shows bland spindle cells in fascicles, with nuclear beta-catenin staining and no metastatic potential. What is the diagnosis?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
D. Desmoid tumour (aggressive fibromatosis)
Desmoid tumours arise in FAP and Gardner syndrome, with APC or CTNNB1 mutations activating the Wnt pathway and nuclear beta-catenin. They infiltrate locally and recur after surgery but do not metastasise.
Option by option
A. Leiomyosarcoma
Leiomyosarcoma is a pleomorphic malignant tumour that does metastasise.
B. Gastrointestinal stromal tumour
GIST is KIT or DOG1 positive and arises in the gut wall.
C. Dermatofibrosarcoma protuberans
DFSP has a storiform pattern, CD34 positivity and a COL1A1-PDGFB fusion.
D. Desmoid tumour (aggressive fibromatosis) (correct)
Correct. Locally aggressive, non-metastasising fibroblastic tumour with nuclear beta-catenin.
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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