Rapid Development of Colorectal Neoplasia in Patients With Lynch Syndrome

Daniel L. Edelstein, Jennifer Axilbund, Melanie Baxter, Linda M. Hylind, Katharine Romans, Constance A. Griffin, Marcia Cruz-Correa, Francis M. Giardiello

Research output: Contribution to journalArticlepeer-review

90 Scopus citations


Background & Aims: Patients with Lynch syndrome have a high risk for colorectal adenomas and carcinomas. We evaluated the development of colorectal neoplasia in these patients. Methods: We assessed serial colonoscopy findings from 54 persons from 29 pedigrees with pathogenic mutations in MSH2 or MLH1; we evaluated the development of colorectal neoplasia by age, sex, tumor location, and number (mean follow-up time, 9.3 years; colonoscopy interval, 1.7 ± 1.2 years; 112 adenomas and 31 cancers). Differences in colorectal phenotype were analyzed by genotype, and dwell time was calculated for advanced neoplasias. Results: Among mutation carriers, the cumulative risk of colorectal neoplasia was 43% by age 40 years and 72% by 80 years. There were no statistically significant associations between time to development of colorectal neoplasia and sex or mutation type. Most female patients had left-sided neoplasms, whereas most male patients developed right-sided lesions. The mean cumulative numbers of neoplastic lesions in patients were 1.3 ± 0.5 by age 30 years and 7.6 ± 6.8 by age 80 years. Polyp dwell time was 33.0 ± 16.2 months and 35.2 ± 22.3 months for advanced adenoma and colorectal cancer, respectively. The 5-year survival rate for patients with colorectal cancer was 96%. Conclusions: High percentages of individuals with pathogenic mutations in MSH2 or MLH1 develop colorectal neoplasia by age 40. Left-sided colorectal neoplasias are more frequent in female patients. The development of 3 or more colorectal neoplasms by age 30 years indicates a possible polyposis syndrome rather than Lynch syndrome. Polyp dwell time is short for advanced neoplasias, arguing for annual colonoscopic screening and surveillance.

Original languageEnglish (US)
Pages (from-to)340-343
Number of pages4
JournalClinical Gastroenterology and Hepatology
Issue number4
StatePublished - Apr 2011
Externally publishedYes


  • CRC
  • Colon Cancer
  • Mismatch Repair (MMR) Genes

ASJC Scopus subject areas

  • Hepatology
  • Gastroenterology


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