Tumor-specific methylation in bronchial lavage for the early detection of non-small-cell lung cancer

J Clin Oncol. 2004 Jun 15;22(12):2363-70. doi: 10.1200/JCO.2004.10.077.

Abstract

Purpose: The aim of this study was to identify tumor-specific methylation in bronchial lavage for the early detection of non-small-cell lung cancer (NSCLC) by differentiating the age-related methylation from the tumor-specific methylation in NSCLC.

Patients and methods: Eighty-five NSCLC patients and 127 cancer-free subjects participated in this study. Aberrant methylation at the promoters of the p16, Ras association domain family 1A (RASSF1A), fragile histidine triad (FHIT), H-cadherin, and retinoic acid receptor beta (RARbeta) genes were evaluated in the resected tumor tissues and bronchial lavage samples of NSCLC patients and in the bronchial lavage samples of cancer-free subjects by methylation-specific polymerase chain reaction.

Results: Of the 127 cancer-free samples, methylation was detected in 6% for p16, 13% for RARbeta, 3% for H-cadherin, 4% for RASSF1A, and 28% for FHIT. Hypermethylation of the p16, RARbeta, H-cadherin, and RASSF1A genes was not associated with patient age and smoking, whereas hypermethylation of the FHIT promoter occurred more frequently in older patients (P =.02) and was associated with exposure to tobacco smoke (P =.001). A strong correlation between age and smoking was found in patients with hypermethylation of the FHIT gene (r = 0.36; P =.03). A total of 68% of the bronchial lavage samples from the 85 NSCLC patients showed methylation of at least one of p16, RARbeta, H-cadherin, and RASSF1A genes.

Conclusion: Our study suggests that tumor-specific methylation of the p16, RASSF1A, H-cadherin, and RARbeta genes may be a valuable biomarker for the early detection of NSCLC in bronchial lavage, and that the age-related methylation of FHIT gene in the normal bronchial epithelium is related to the exposure to tobacco smoke.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Acid Anhydride Hydrolases / genetics
  • Acid Anhydride Hydrolases / metabolism
  • Adult
  • Age Factors
  • Aged
  • Biomarkers, Tumor
  • Bronchoalveolar Lavage
  • Cadherins / genetics
  • Carcinoma, Non-Small-Cell Lung / genetics
  • Carcinoma, Non-Small-Cell Lung / metabolism*
  • DNA Methylation*
  • Genes, Tumor Suppressor
  • Genes, p16
  • Humans
  • Lung Neoplasms / genetics
  • Lung Neoplasms / metabolism*
  • Middle Aged
  • Neoplasm Proteins / genetics
  • Neoplasm Proteins / metabolism
  • Promoter Regions, Genetic
  • Receptors, Retinoic Acid / genetics
  • Smoking

Substances

  • Biomarkers, Tumor
  • Cadherins
  • H-cadherin
  • Neoplasm Proteins
  • Receptors, Retinoic Acid
  • fragile histidine triad protein
  • retinoic acid receptor beta
  • Acid Anhydride Hydrolases