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OBG · Gynaecological oncology: Lynch syndrome
Sample itemA woman with a family history of colorectal cancer develops endometrial carcinoma at 42 years. Which syndrome should be suspected?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
C. Lynch syndrome (hereditary non-polyposis colorectal cancer)
Lynch syndrome results from mismatch repair gene mutations (MLH1, MSH2, MSH6, PMS2) and gives lifetime endometrial cancer risk of up to 40 to 60 per cent. Endometrial cancer may be the sentinel cancer. Risk-reducing hysterectomy with bilateral salpingo-oophorectomy is offered after childbearing.
Option by option
A. Peutz-Jeghers syndrome
Peutz-Jeghers causes sex cord tumours with annular tubules.
B. Cowden syndrome
Cowden syndrome is linked to breast and thyroid cancer, and also endometrial, but the colorectal pattern points to Lynch.
C. Lynch syndrome (hereditary non-polyposis colorectal cancer) (correct)
Correct. Endometrial cancer with colorectal cancer history suggests Lynch syndrome.
D. Li-Fraumeni syndrome
Li-Fraumeni is associated with sarcomas and breast cancer.
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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