Integrating DNA methylation and microRNA biomarkers in sputum for lung cancer detection

Clin Epigenetics. 2016 Oct 19:8:109. doi: 10.1186/s13148-016-0275-5. eCollection 2016.

Abstract

Background: Abnormal microRNA (miRNA) expressions and promoter methylation of genes detected in sputum may provide biomarkers for non-small lung cancer (NSCLC). Here, we evaluate the individual and combined analysis of the two classes of sputum molecular biomarkers for NSCLC detection.

Results: We analyze expression of 3 miRNAs (miR-21, miR-31, and miR-210) and methylation of 3 genes (RASSF1A, PRDM14, and 3OST2), which were previously identified as potential biomarkers for NSCLC, in sputum of a set of 117 stage I NSCLC patients and 174 cancer-free smokers. The results are validated in a different set of 144 stage I NSCLC patients and 171 controls. The panel of 3 miRNA biomarkers has 81.5 % sensitivity and 85.9 % specificity; the panel of 3 methylation biomarkers displays 82.9 % sensitivity and 76.4 % specificity for NSCLC detection. Integrated analysis of 2 miRNAs (miR-31 and miR-210) and 2 genes (RASSF1A and 3OST2) yields higher sensitivity (87.3 %) and specificity (90.3 %) compared with the individual panels of the biomarkers (P < 0.05). Combined analysis of all the 3 miRNAs and 3 genes does not have performance superior to that of the panel of 2 miRNAs and 2 genes (P > 0.05). The performance of combined use of the two classes of biomarkers was confirmed in the validation set.

Conclusions: The integration of two different classes of biomarkers synergistically improves both the sensitivity and the specificity for the early detection of NSCLC.

Keywords: DNA methylation; Diagnosis; Lung cancer; MicroRNA; Sputum.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Carcinoma, Non-Small-Cell Lung / diagnosis*
  • Carcinoma, Non-Small-Cell Lung / genetics
  • DNA Methylation*
  • DNA-Binding Proteins
  • Early Detection of Cancer
  • Epigenesis, Genetic
  • Female
  • Gene Expression Regulation, Neoplastic
  • Genetic Markers / genetics*
  • Humans
  • Lung Neoplasms / diagnosis*
  • Lung Neoplasms / genetics
  • Male
  • MicroRNAs / genetics
  • Middle Aged
  • RNA-Binding Proteins
  • Repressor Proteins / genetics
  • Sensitivity and Specificity
  • Sputum / chemistry*
  • Transcription Factors
  • Tumor Suppressor Proteins / genetics

Substances

  • DNA-Binding Proteins
  • Genetic Markers
  • MIRN21 microRNA, human
  • MIRN210 microRNA, human
  • MIRN31 microRNA, human
  • MicroRNAs
  • PRDM14 protein, human
  • RASSF1 protein, human
  • RNA-Binding Proteins
  • Repressor Proteins
  • Transcription Factors
  • Tumor Suppressor Proteins