High-throughput molecular genotyping for small biopsy samples in advanced non-small cell lung cancer patients

Anticancer Res. 2013 Nov;33(11):5127-33.

Abstract

Background: Despite the key role of mutational analysis in targeted therapy, the difficulty in acquisition of adequate tumor tissues for molecular genotyping in advanced non-small cell lung cancer (NSCLC) has led to the need for a fast and efficient method for detecting genetic alterations for targeted therapy.

Patients and methods: We analyzed tissue specimens of advanced NSCLC. A mass spectrometry-based assay was used to investigate 471 oncogenic mutations. All tumor specimens were prepared from fresh-frozen tissues.

Results: In total, there were 59 hotspot mutations in 67% of the entire patient group (41 out of 61 patients). The most frequent mutation was in TP53 (n=24, 39.3%), followed by EFGR (n=19, 31.1%). Others included MLH1, KRAS, PIK3CA, ERBB2, ABL1 and HRAS.

Conclusion: Our results suggest that molecular genotyping using high-throughput technology such as OncoMap v4 is feasible, even with small biopsied specimens from patients with advanced NSCLC.

Keywords: NSCLC; high-throughput method; molecular genotyping; mutation.

Publication types

  • Comparative Study

MeSH terms

  • Adenocarcinoma / genetics*
  • Adenocarcinoma / mortality
  • Adenocarcinoma / therapy
  • Adult
  • Aged
  • Aged, 80 and over
  • Biomarkers, Tumor / genetics*
  • Carcinoma, Non-Small-Cell Lung / genetics*
  • Carcinoma, Non-Small-Cell Lung / mortality
  • Carcinoma, Non-Small-Cell Lung / therapy
  • Carcinoma, Squamous Cell / genetics*
  • Carcinoma, Squamous Cell / mortality
  • Carcinoma, Squamous Cell / therapy
  • DNA Mutational Analysis
  • Female
  • Follow-Up Studies
  • Genotype
  • High-Throughput Screening Assays
  • Humans
  • Lung Neoplasms / genetics*
  • Lung Neoplasms / mortality
  • Lung Neoplasms / therapy
  • Male
  • Middle Aged
  • Mutation / genetics*
  • Neoplasm Recurrence, Local / genetics*
  • Neoplasm Recurrence, Local / mortality
  • Neoplasm Recurrence, Local / therapy
  • Neoplasm Staging
  • Prognosis
  • Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization
  • Survival Rate

Substances

  • Biomarkers, Tumor