A 48-year-old woman with Stage IA grade 1 endometrioid endometrial carcinoma (invades <50% myometrium, no LVSI) is treated with hysterectomy and bilateral salpingo-oophorectomy. She is nulliparous and has been in remission for 2 years. Lynch syndrome testing reveals MLH1 germline mutation. What surveillance/management recommendation applies specifically to her Lynch syndrome status?
- A Annual CA-125 and pelvic MRI for endometrial cancer surveillance only
- B Indefinite pelvic radiation to prevent local recurrence given Lynch syndrome high-risk status
- C Initiation of pembrolizumab immunotherapy to prevent recurrence
- D Annual or biennial colonoscopy for colorectal cancer (most common Lynch-associated cancer); consider prophylactic ovary removal if not already done; aspirin chemoprevention (CaPP2 trial data) ✓
Explanation
Lynch syndrome (hereditary nonpolyposis colorectal cancer, HNPCC) is an autosomal dominant condition caused by germline mutations in MMR genes (MLH1, MSH2, MSH6, PMS2). Women with Lynch syndrome have a 40–60% lifetime risk of endometrial cancer (often the sentinel malignancy) and 40–80% risk of colorectal cancer. After treatment of index endometrial cancer: annual/biennial colonoscopy starting at age 25 or 2–5 years before earliest family cancer diagnosis is mandatory; risk-reducing BSO (bilateral salpingo-oophorectomy) significantly reduces ovarian cancer risk if not already performed; aspirin was shown in the CaPP2 trial to reduce Lynch syndrome-associated cancer risk with 600 mg/day over 2 years showing benefit. Urological surveillance for urothelial cancers is also recommended, particularly for MSH2/MSH6 carriers.
Reference: Shaw's Textbook of Gynaecology, 17th ed.
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Written and medically reviewed by the StethoPrep medical team.