Multiplex mutation detection using digital PCR method and its clinical utility

2017 Fiscal Year Final Research Report

• Project/Area Number: 15K09226
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Respiratory organ internal medicine
• Research Institution: Wakayama Medical University
• Principal Investigator: Yamamoto Nobuyuki 和歌山県立医科大学, 医学部, 教授 (60298966)
• Co-Investigator(Kenkyū-buntansha): 洪 泰浩 和歌山県立医科大学, 医学部, 准教授 (80426519) ; 赤松 弘朗 和歌山県立医科大学, 医学部, 助教 (10646582)
• Co-Investigator(Renkei-kenkyūsha): KIKUCHI Takashi 和歌山県立医科大学, 医学部, 助教 (40649050)
• Project Period (FY): 2015-04-01 – 2018-03-31
• Keywords: がん個別化医療 / 肺がん / リキッドバイオプシー / EGFR変異 / デジタルPCR

Outline of Final Research Achievements

We developed a multiplex digital PCR assay to detect 3 common EGFR mutations (L858R, exon 19 deletion T790M) in 1 reaction. Liquid biopsy (LB) has been approved to detect epidermal growth factor receptor (EGFR) mutations in non-small cell lung cancer (NSCLC). However, the clinical significance of monitoring the disease using LB remains elusive.
We conducted a clinical study evaluating the significance of serial tracking of EGFR mutation using plasma DNA. Chemotherapy naive, advanced NSCLC patients with EGFR-sensitizing mutation received afatinib until progressive disease (PD) or unacceptable toxicity. Fifty-seven patients were registered in the study. After treatment, negative conversion of sensitizing mutation within four weeks was observed among 87.5% of the patients. These patients demonstrated significantly longer progression-free survival than those without negative conversion. LB is a useful method to predict durable efficacy in EGFR mutated NSCLC patients.

Free Research Field

臨床腫瘍学