Underutilization of microsatellite instability analysis in colorectal cancer patients at high risk for Lynch syndrome

Scand J Gastroenterol. 2009;44(5):600-4. doi: 10.1080/00365520802706008.


Objective: The revised Bethesda Guidelines were published to improve the efficiency of recognizing Lynch syndrome (LS) by identifying LS-related malignancies that should be analyzed for microsatellite instability (MSI). The aim of this study was to evaluate whether MSI analysis was performed in colorectal cancer patients at risk for LS according to the revised Bethesda Guidelines.

Material and methods: Patients diagnosed with colorectal cancer in 11 Dutch hospitals in 2005 and 2006 were selected from a regional database. The patients were included in the study if they met any of the following criteria; 1) diagnosed with colorectal cancer <50 years, 2) a second LS-associated tumor prior to the diagnosis of colorectal cancer in 2005/2006, and 3) colorectal cancer <60 years with a tumor displaying mucinous or signet-ring differentiation or medullary growth pattern.

Results: Of 1905 colorectal cancer patients, 169 met at least one of the inclusion criteria. MSI analysis had been performed in 23 (14%) of the 169 tumors. MSI status had been determined in 18 of 80 included patients aged <50 years, in 4 of 70 patients with a second LS-related tumor, and in 3 of 41 patients aged <60 years with high-risk pathology features.

Conclusions: There is marked underutilization of MSI analysis in patients at risk for LS. As a result LS might be underdiagnosed both in patients with colorectal cancer and in their relatives.

Publication types

  • Comparative Study
  • Multicenter Study

MeSH terms

  • Adult
  • Age Factors
  • Aged
  • Biopsy, Needle
  • Cohort Studies
  • Colorectal Neoplasms / diagnosis
  • Colorectal Neoplasms / epidemiology
  • Colorectal Neoplasms / genetics
  • Colorectal Neoplasms, Hereditary Nonpolyposis / diagnosis
  • Colorectal Neoplasms, Hereditary Nonpolyposis / epidemiology
  • Colorectal Neoplasms, Hereditary Nonpolyposis / genetics*
  • DNA Mutational Analysis
  • Female
  • Gene Expression Regulation, Neoplastic
  • Genetic Testing / statistics & numerical data*
  • Heterozygote*
  • Humans
  • Immunohistochemistry
  • Incidence
  • Male
  • Microsatellite Instability*
  • Middle Aged
  • MutS DNA Mismatch-Binding Protein / genetics*
  • Needs Assessment
  • Neoplasm Staging
  • Netherlands
  • Practice Guidelines as Topic
  • Probability
  • Prognosis
  • Registries
  • Sex Factors


  • MutS DNA Mismatch-Binding Protein