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Pathology · Neoplasia: thyroid carcinomas
Sample itemA 28-year-old woman has a thyroid nodule with an enlarged cervical lymph node. FNAC shows overlapping, optically clear nuclei with grooves and intranuclear pseudoinclusions. Which genetic alteration is the most common in this tumour?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
A. BRAF V600E point mutation
These nuclear features, often called Orphan Annie eye nuclei, define papillary thyroid carcinoma, which also shows psammoma bodies and spreads by lymphatics. BRAF V600E is its commonest mutation. Prognosis is excellent, and radioiodine ablation and TSH suppression are used after thyroidectomy.
Option by option
A. BRAF V600E point mutation (correct)
BRAF V600E is the most frequent driver mutation in papillary thyroid carcinoma.
B. TP53 inactivation
TP53 inactivation is characteristic of anaplastic thyroid carcinoma.
C. RET germline point mutation
Germline RET point mutations cause MEN 2 and medullary thyroid carcinoma.
D. PAX8-PPARG fusion
PAX8-PPARG fusion is associated with follicular 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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