Quantification of fusion alleles and resistant mutation alleles in plasma of patients with lung cancer

2017 Fiscal Year Final Research Report

• Project/Area Number: 16K21644
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Respiratory organ internal medicine; Laboratory medicine
• Research Institution: National Cancer Center Japan
• Principal Investigator: Yoshitaka Seki 国立研究開発法人国立がん研究センター, 研究所, 外来研究員 (00733213)
• Project Period (FY): 2016-04-01 – 2018-03-31
• Keywords: リキッドバイオプシー / 血中循環細胞外DNA / ドライバー遺伝子変異 / チロシンキナーゼ阻害薬 / 薬剤耐性診断 / 次世代シークエンシング

Outline of Final Research Achievements

Detection of EML4-ALK fusion gene and resistant mutation from genomic DNA is useful for clinical application. We aimed to quantify EML4-ALK fusion alleles and resistant mutation alleles in plasma of patients with lung cancer harboring EML4-ALK fusion.
Our group tried quantitative analysis of EML4-ALK fusion gene in plasma cell-free DNA(cfDNA) using the next-generation sequencer.At first, with the new genomic DNA concentration method, we developed a custom panel including the target sequence mainly on a fused gene and the resistant gene.
Using this technique, every alleles with sequence including the target fusion gene could be quantified, and sequence including breakpoints were identified from cell lines. The quantifiability and reproducibility were also confirmed.

Free Research Field

血中循環細胞外DNA