Defective mismatch-repair colorectal cancer: clinicopathologic characteristics and usefulness of immunohistochemical analysis for diagnosis

Am J Clin Pathol. 2004 Sep;122(3):389-94. doi: 10.1309/V9PG-K2Y2-60VF-VULR.

Abstract

The purpose of our study was to determine the usefulness of immunohistochemical analysis for the diagnosis of mismatch-repair (MMR) gene defective colorectal tumors and to describe their prevalence and clinicopathologic characteristics. We studied 172 cases. DNA was extracted from formalin-fixed, paraffin-embedded surgical samples, and microsatellite analysis was performed by polymerase chain reaction with BAT-26. The results were correlated with immunohistochemical analysis for hMLH1 and hMSH2. Microsatellite instability (MSI) was detected in 13 (7.6%) tumors, and all showed loss of protein expression of hMLH1 (11/13) or hMSH2 (2/13) (P < .000). Patients with MMR-defective tumors more frequently had poorly differentiated tumors (5/13 [38%] vs 18/159 [11.3%]; P = .02) located in the ascending colon (8/13 [62%] vs 30/159 [18.9%]; P < .0001) and a personal history of other neoplasms (4/13 [31%] vs 18/159 [11.3%]; P = .05). There were no differences in age, family history of cancer, or TNM stage. Immunohistochemical analysis seems to be a reliable method to detect most colorectal cancers with defective MMR genes.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adaptor Proteins, Signal Transducing
  • Aged
  • Aged, 80 and over
  • Base Pair Mismatch / genetics*
  • Carrier Proteins
  • Colorectal Neoplasms / genetics*
  • Colorectal Neoplasms / pathology*
  • DNA-Binding Proteins / biosynthesis*
  • Female
  • Humans
  • Immunohistochemistry
  • Male
  • Microsatellite Repeats
  • Middle Aged
  • MutL Protein Homolog 1
  • MutS Homolog 2 Protein
  • Neoplasm Proteins / biosynthesis*
  • Neoplasm Staging
  • Nuclear Proteins
  • Polymerase Chain Reaction
  • Proto-Oncogene Proteins / biosynthesis*

Substances

  • Adaptor Proteins, Signal Transducing
  • Carrier Proteins
  • DNA-Binding Proteins
  • MLH1 protein, human
  • Neoplasm Proteins
  • Nuclear Proteins
  • Proto-Oncogene Proteins
  • MSH2 protein, human
  • MutL Protein Homolog 1
  • MutS Homolog 2 Protein