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Pathology · Gynaecological pathology: endometrial carcinoma
Sample itemA 58-year-old obese, diabetic nulliparous woman has postmenopausal bleeding. Biopsy shows crowded glands with endometrioid carcinoma. Which molecular alteration is most frequent in this tumour type?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
A. PTEN loss of function
Type I endometrioid carcinoma is linked to prolonged unopposed oestrogen, shown by obesity, anovulation and nulliparity, and develops from atypical hyperplasia. Inactivating PTEN mutations are the most frequent alteration, along with PIK3CA, KRAS and microsatellite instability. Serous carcinoma, by contrast, arises in atrophic endometrium with TP53 mutation.
Option by option
A. PTEN loss of function (correct)
Correct. PTEN inactivation is the commonest alteration in endometrioid carcinoma.
B. Germline BRCA1 mutation
BRCA1 mutation is associated with ovarian high-grade serous and breast cancers.
C. APC mutation
APC mutation underlies familial adenomatous polyposis and colorectal adenomas.
D. TP53 mutation as the initiating event
TP53 mutation is the initiating event in serous carcinoma, not endometrioid 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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