演題抄録

International Session

開催概要
開催回
第55回・2017年・横浜
 

A clinical validation study of RASKET-B: A multiple detection kit for RAS and BRAF gene mutations in colorectal cancer

演題番号 : IS6-6

[筆頭演者]
工藤 敏啓:1 
[共同演者]
佐藤 太郎:1、岡本 渉:2、室 圭:3、谷口 浩也:3、赤木 究:4、原 浩樹:5、仁科 智裕:6、梶原 猛史:6、傳田 忠道:7、廣中 秀一:8、吉野 孝之:9

1:大阪大学・大学院医学系研究科・先進癌薬物療法開発学寄附講座、2:国立がん研究センター早期・探索臨床研究センター・トランスレーショナルリサーチ分野、3:愛知県がんセンター中央病院・薬物療法部、4:埼玉県立がんセンター・腫瘍診断・予防科、5:埼玉県立がんセンター・消化器内科、6:独立行政法人国立病院機構四国がんセンター・消化器内科、7:千葉県がんセンター・消化器内科、8:千葉県がんセンター・臨床試験推進部、9:国立研究開発法人国立がん研究センター東病院・消化管内科

 

Background: The detection of RAS and BRAF gene mutations has been essential to determine the treatment strategy for metastatic colorectal cancer (CRC). A multiplex kit simultaneously detecting both gene mutations is required, although few genetic assays with high-quality assurance are established. We evaluated RAS/BRAF KIT (RASKET-B), a multiplex assay using PCR-reverse sequence specific oligonucleotide (PCR-rSSO) and xMAP technology to concurrently detect 48 types of RAS mutations as well as the BRAF V600E mutation in a short turnaround time (4.5 h/96 specimens). Methods: Formalin-fixed paraffin-embedded tissues were obtained from 309 consenting patients with histologically-confirmed CRC. The primary endpoint was the concordance rate (CR) between RAS mutations identified with RASKET-B and a PCR-rSSO method kit (RASKET) and between BRAF mutations identified with direct sequencing (DS), respectively. As the secondary endpoints, we evaluated the CR between RASKET-B and DS for RAS mutations and between RASKET-B and the pyrosequencing (PYRO) method for BRAF V600E mutation. Result: We registered 302 samples, all of which were tested using the RASKET-B and reference methods. In RAS genes, 142 samples (47.0%) were detected by RASKET-B: 114 KRAS exon 2 and 28 other RAS mutations. The CR between RASKET-B and RASKET or RASKET-B and DS were 100% (95%CI: 99-100%) and 97.4% (95%CI: 95-99%), respectively. In BRAF genes, 18 samples (6.0%) were detected using RASKET-B. The CR between RASKET-B and DS or RASKET-B and PYRO were 100% (95%CI: 99-100%) and 99.7% (95%CI: 98-100%), respectively. The result of RASKET-B was consistent with that of DS. Even in specimens with lower tumor cell ratio and tumor area ratio did not decrease the mutation detection rate in RASKET-B. Conclusion: RASKET-B provides rapid, precise and simultaneous detections of RAS and BRAF mutations in CRC. Study ID: UMIN000022742.

キーワード

臓器別:大腸・小腸

手法別:バイオマーカー

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