Reduced expression of mismatch repair genes measured by multiplex reverse transcription-polymerase chain reaction in human gliomas

Cancer Res. 1997 May 1;57(9):1673-7.

Abstract

Microsatellite instability (MIN) is frequently observed in hereditary nonpolyposis colon cancer and in other sporadic cancers including gliomas. Abnormalities in at least one of five mismatch repair (MMR) genes are implicated in the development of cancers in hereditary nonpolyposis colon cancer and the associated MIN. Using a newly developed multiplex reverse transcription-PCR assay, we evaluated the expression of the five known human MMR genes (hMSH2, hMLH1, hPMS1, hPMS2, and GTBP) in human gliomas by measuring simultaneously the relative levels of the transcripts. The beta-actin gene was used as an internal control for RNA degradation and DNA contamination and as a reference for quantifying the levels of their transcripts. Of the 33 gliomas examined, 42% (14) had low expression of hMSH2 (at least 4-5-fold lower than normal mean), 21% (7) had low expression of hMLH1, and 18% (6) had low expression of hPMS1 compared with the expression in the lymphocytes from 13 normal individuals. Furthermore, six of the 33 (18%) tumor samples had decreased expression of more than one MMR gene. Two of these six patients with multiple gene abnormalities had second primary cancers, and an additional patient had multifocal gliomas. Further molecular analysis of available DNA samples indicated that one of five of those tumors with aberrant expression of MMR genes had MIN, as compared with none of five tumors with normal expression. These data suggest that reduced expression of MMR genes is frequent in human gliomas and that aberrant expression of more than one MMR gene may be associated with increased risk of second primary malignancies in glioma patients.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adaptor Proteins, Signal Transducing
  • Adenosine Triphosphatases*
  • Carrier Proteins*
  • DNA Repair Enzymes*
  • DNA Repair*
  • DNA-Binding Proteins / genetics*
  • Fungal Proteins / genetics*
  • Gene Expression Regulation, Neoplastic
  • Glioma / genetics*
  • Humans
  • Microsatellite Repeats
  • Mismatch Repair Endonuclease PMS2
  • MutL Protein Homolog 1
  • MutL Proteins
  • MutS Homolog 2 Protein
  • Neoplasm Proteins*
  • Polymerase Chain Reaction / methods
  • Proteins / genetics*
  • RNA, Messenger / genetics
  • RNA, Neoplasm / genetics
  • Saccharomyces cerevisiae Proteins

Substances

  • Adaptor Proteins, Signal Transducing
  • Carrier Proteins
  • DNA-Binding Proteins
  • Fungal Proteins
  • MLH1 protein, S cerevisiae
  • Neoplasm Proteins
  • PMS1 protein, human
  • Proteins
  • RNA, Messenger
  • RNA, Neoplasm
  • Saccharomyces cerevisiae Proteins
  • Adenosine Triphosphatases
  • PMS2 protein, human
  • Mismatch Repair Endonuclease PMS2
  • MutL Protein Homolog 1
  • MutL Proteins
  • MutS Homolog 2 Protein
  • DNA Repair Enzymes