Highly sensitive detection of a HER2 12-base pair duplicated insertion mutation in lung cancer using the Eprobe-PCR method

PLoS One. 2017 Feb 2;12(2):e0171225. doi: 10.1371/journal.pone.0171225. eCollection 2017.

Abstract

Somatic mutation in human epidermal growth factor receptor-related 2 gene (HER2) is one of the driver mutations in lung cancer. HER2 mutations are found in about 2% of lung adenocarcinomas (ADCs). Previous reports have been based mainly on diagnostic screening by Sanger sequencing or next-generation sequencing (NGS); however, these methods are time-consuming and complicated. We developed a rapid, simple, sensitive mutation detection assay for detecting HER2 12 base pair-duplicated insertion mutation based on the Eprobe-mediated PCR method (Eprobe-PCR) and validated the sensitivity of this assay system for clinical diagnostics. We examined 635 tumor samples and analyzed HER2 mutations using the Eprobe-PCR method, NGS, and Sanger sequencing. In a serial dilution study, the Eprobe-PCR was able to detect mutant plasmid DNA when its concentration was reduced to 0.1% by mixing with wild-type DNA. We also confirmed amplification of the mutated plasmid DNA with only 10 copies per reaction. In ADCs, Eprobe-PCR detected the HER2 mutation in 2.02% (9/446), while Sanger sequencing detected it in 1.57% (7/446). Eprobe-PCR was able to detect the mutation in two samples that were undetectable by Sanger sequencing. All non-ADC samples were wild-type. There were no discrepancies between frozen and formalin-fixed paraffin-embedded tissues in the nine samples. HER2 mutations detected by NGS data validated the high sensitivity of the method. Therefore, this new technique can lead to precise molecular-targeted therapies.

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Female
  • Genes, erbB-2 / genetics*
  • High-Throughput Nucleotide Sequencing / methods
  • Humans
  • Lung Neoplasms / genetics*
  • Male
  • Middle Aged
  • Mutagenesis, Insertional / genetics*
  • Polymerase Chain Reaction / methods
  • Reproducibility of Results
  • Sensitivity and Specificity

Grants and funding

This work was supported by the subsidy of expenses by METI (Ministry of Economy, Trade and Industry, Japan) for measures for small business support to YM, and by a Research Grant from the Japanese Ministry of Education, Culture, Sports, Science and Technology (MEXT) to the RIKEN Center for Life Science Technologies to PC. K.K. DNAFORM provided support in the form of salaries for authors (Tatsuo Ichihara [TI], Yasumasa Mitani [YM]], but did not have any additional role in the study design, data collection and analysis, decision to publish, or preparation of the manuscript. The specific roles of these authors are articulated in the ‘author contributions’ section.