Identification of actionable mutations in surgically resected tumor specimens from Japanese patients with non-small cell lung cancer by ultra-deep targeted sequencing.
Identification of actionable mutations in surgically resected tumor specimens from Japanese patients with non-small cell lung cancer by ultra-deep targeted sequencing.
复制标题
通过超深度靶向测序鉴定日本非小细胞肺癌患者手术切除的肿瘤标本中可操作的突变。
DOI：
10.1200/jco.2013.31.15_suppl.7572
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发表时间：
2013
影响因子：
45.3
通讯作者：
N. Yamamoto
中科院分区：
文献类型：
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作者：
Y. Koh;H. Kenmotsu;M. Serizawa;M. Isaka;K. Mori;H. Imai;H. Akamatsu;A. Ono;T. Naito;T. Taira;H. Murakami;Toshiaki Takahashi;M. Endo;T. Nakajima;Y. Ohde;N. Yamamoto
7572背景：肿瘤基因变异的检测是肺癌临床和分子靶向治疗的迫切需要。在这里，我们报告了通过超深度靶向测序在日本非小细胞肺癌（NSCLC）患者中鉴定的广谱遗传改变的结果。方法：使用从速冻肿瘤标本中提取的基因组DNA进行高度多重扩增子测序。TruSeq扩增子癌症组用于检测48个癌症相关基因中的体细胞突变，然后以约2800 x的平均覆盖率进行超深度测序（Illumina）。采用多重RT-PCR和定量PCR分别检测ALK、ROS 1和RET易位以及EGFR、MET、PIK 3CA、FGFR 1和FGFR 2扩增。结果如下：2011年7月至2012年11月期间，在静冈癌症中心参加这项前瞻性研究的204名连续患者的人口统计学资料：中位年龄69岁（范围：38-92岁）;男性66%;非男性66%。
7572 Background: Detection of tumor genetic alterations is critically needed for lung cancer clinic as well as for the development of molecular targeted therapeutics. Here we report the results of a broad spectrum of genetic alterations identified in Japanese non-small cell lung cancer (NSCLC) patients by ultra-deep targeted sequencing. Methods: Highly multiplexed amplicon sequencing was performed using genomic DNA extracted from snap-frozen tumor specimens. TruSeq amplicon cancer panel was used for the detection of somatic mutations in 48 cancer related genes followed by ultra-deep sequencing (Illumina) at an average coverage of approximately 2800x. ALK, ROS1 and RET traslocations and EGFR, MET, PIK3CA, FGFR1 and FGFR2 amplifications were also detected by multiplex RT-PCR and quantitative PCR, respectively. Results: The demographics of 204 consecutive patients enrolled in this prospective study at Shizuoka Cancer Center between July 2011 and November 2012: median age 69 years (range: 38-92); male 66%; ne...