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Pathology · Endocrine: papillary thyroid carcinoma
Sample itemA 30-year-old woman has a firm thyroid nodule with cervical lymph node metastasis. Histology shows papillae with optically clear nuclei and nuclear grooves. Which genetic alteration is most common in sporadic cases of this tumour?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
C. BRAF V600E mutation
BRAF V600E is the most frequent genetic event in sporadic papillary thyroid carcinoma, followed by RET/PTC rearrangements in radiation-related cases. The tumour spreads through lymphatics to cervical nodes and still has an excellent prognosis. RAS and PAX8-PPAR gamma occur in follicular neoplasms.
Option by option
A. Inactivating TP53 mutation
TP53 inactivation is typical of anaplastic carcinoma.
B. Point mutation of the RET gene
RET point mutations cause medullary thyroid carcinoma in MEN 2.
C. BRAF V600E mutation (correct)
Correct. BRAF V600E is the commonest alteration in papillary carcinoma.
D. RAS mutation with PAX8-PPAR gamma fusion
RAS mutation and PAX8-PPAR gamma fusion characterise follicular neoplasms.
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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