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Pathology · Endocrine pathology
Sample itemA thyroid nodule shows sheets of polygonal cells in a stroma containing amyloid, and serum calcitonin is raised. A mutation in which gene is associated with the hereditary form of this tumour?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
A. RET
Medullary thyroid carcinoma arises from parafollicular C cells, secretes calcitonin and the amyloid stroma derives from calcitonin. Germline RET mutations underlie MEN 2A and 2B and familial medullary carcinoma.
Option by option
A. RET (correct)
Correct. Activating germline RET mutations cause the hereditary medullary thyroid carcinoma syndromes.
B. PAX8-PPAR gamma
The PAX8-PPAR gamma fusion is found in a subset of follicular carcinomas.
C. BRAF
BRAF V600E is the typical driver in papillary thyroid carcinoma.
D. TP53
TP53 mutation is typical of anaplastic thyroid carcinoma.
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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