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Associations Between Mutations in MSH6 and PMS2 and Risk of Surveillance-detected Colorectal Cancer. | LitMetric

AI Article Synopsis

  • Lynch syndrome is the leading inherited cause of colorectal cancer (CRC), and this study examined the CRC-risk among patients undergoing regular colonoscopy surveillance in New Zealand.
  • A total of 381 participants with various Lynch syndrome mutations were followed, with 18 individuals developing CRC after an average of 6.5 years; most cases were diagnosed early and with no CRC-related deaths.
  • The findings highlighted different CRC risks based on specific mutations, indicating a 5-year risk of 2.49% overall, and cumulative risks by age 70 for MLH1, MSH2, and MSH6 variants were 17.7%, 17.8%, and 8.5%, respectively.

Article Abstract

Background & Aims: Lynch syndrome is the most common inherited cause of colorectal cancer (CRC). Contemporary and mutation-specific estimates of CRC-risk in patients undergoing colonoscopy would optimize surveillance strategies. We performed a prospective national cohort study, using data from New Zealand, to assess overall and mutation-specific risk of CRC in patients with Lynch syndrome undergoing surveillance.

Methods: We performed a prospective study of 381 persons with Lynch syndrome in New Zealand (98 with Lynch-syndrome associated variants in MLH1, 159 in MSH2, 103 in MSH6, and 21 in PMS2). Participants were offered annual colonoscopy starting at age 25 y, and those who underwent 2 or more colonoscopies before December 31, 2017 were included in the final analysis. Patients with previous colonic resection, history of CRC or diagnosis of CRC at index colonoscopy were excluded.

Results: Study participants underwent 2061 colonoscopies during 2296 person-y; the median observation-period was 4.43 y and mean-age at enrollment was 43 y. Eighteen patients developed CRC (8 with variants in MLH1, 8 in MSH2, and 2 in MSH6) after a median follow-up period of 6.5 y (range 1-16 y). Eighty-three percent of patients had a surveillance colonoscopy in preceding 24 months before diagnosis of CRC; 94% were diagnosed with stage 0-II CRC and there was no CRC-related mortality. The overall-risk of developing CRC in the 5 y after first surveillance colonoscopy was 2.49% (95% CI, 1.18-5.23); cumulative risks for CRC in patients with Lynch syndrome-associated variants in MLH1, MSH2, or MSH6 by age 70 y were 17.7%, 17.8%, and 8.5%, respectively. Age-adjusted CRC-risk in patients with variants in MSH6 was lower than in MLH1 (hazard ratio, 0.2; 95% CI, 0.04-0.94; P = .02). Of patients with CRC, 33% had an adenomatous polyp resected from same segment in which a colorectal tumor later developed.

Conclusions: The risk of CRC in patients with Lynch syndrome-associated mutations in MSH6 or PMS2 was significantly lower than in patients with mutations in MLH1. Incomplete adenomatous polyp resection might be responsible for one third of surveillance-detected CRCs.

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Source
http://dx.doi.org/10.1016/j.cgh.2020.03.048DOI Listing

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