Surgery · Colorectal Surgery (Large Intestine, Rectal, Anal Canal, Colorectal Carcinoma)

A 48-year-old woman is found to have Lynch syndrome (MLH1 germline mutation) after colorectal cancer diagnosis. Her 22-year-old daughter undergoes colonoscopy and is found to have multiple small tubular adenomas. The current recommendation for colonoscopic surveillance in confirmed Lynch syndrome carriers (gene mutation positive) who are otherwise normal is:

  • A Colonoscopy every 5 years starting at age 40
  • B Annual flexible sigmoidoscopy from age 30
  • C Colonoscopy every 3 years from age 35
  • D Colonoscopy every 1-2 years starting at age 20-25
Correct answer: D. Colonoscopy every 1-2 years starting at age 20-25

Explanation

For confirmed Lynch syndrome (HNPCC) gene mutation carriers, ESMO and ACG guidelines recommend colonoscopy every 1-2 years beginning at age 20-25 (or 2-5 years before the earliest age of CRC in the family, whichever is earlier). This intensive surveillance is justified by the high lifetime CRC risk (60-80% for MLH1/MSH2, 10-22% for MSH6/PMS2) and the accelerated adenoma-to-carcinoma sequence (2-3 years vs 10 years in sporadic CRC). Annual colonoscopy (not sigmoidoscopy) is required given proximal colon predominance in Lynch syndrome.

Reference: Bailey & Love's Short Practice of Surgery, 27th ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

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