[Liquid biopsy in human non-small-cell lung cancer : Blood-based analysis of ctDNA methylation]

Pathologe. 2018 Dec;39(Suppl 2):193-198. doi: 10.1007/s00292-018-0536-5.
[Article in German]

Abstract

Background: Use of liquid biopsy for minimal invasive follow-up diagnostics of non-small-cell lung carcinomas (NSCLCs).

Objectives: Systematic search for new putative blood-based hypermethylation biomarkers to discriminate NSCLC patients from patients without a malign disease.

Methods: Quantitative analysis of gene promoter DNA methylation of potential biomarkers from cfDNA (plasma) with pyrosequencing.

Results: cfDNA hypermethylation in plasma confirmed significant higher methylation frequencies of the candidate gene CFTR of the NSCLC patients compared to the combined control groups and to NSCLC patients after curative therapy of primary NSCLC (post-NSCLC). ROC-analysis of the best discriminatory CpGs of the CFTR promotor (CpG1-2-4) revealed a sensitivity of 52% in NSCLC patients and a specificity of 90% in the post-NSCLC group (AUC: 0.69; p < 0.05).

Conclusions: Promotor hypermethylation of the potential biomarker CFTR shows a discriminatory potential for differentiation of NSCLC patients to patients without a malign disease and should further be investigated.

Keywords: DNA methylation; DNA sequence analysis; Genetic promoter regions; Liquid biopsy; Non-small-cell lung carcinoma.

MeSH terms

  • Carcinoma, Non-Small-Cell Lung*
  • DNA Methylation
  • Humans
  • Liquid Biopsy
  • Lung Neoplasms*
  • Promoter Regions, Genetic