Comparison of Clinically Relevant Mutation Profiles Between Preoperative Biopsy and Corresponding Surgically Resected Specimens in Japanese Patients With Non-Small-cell Lung Cancer by Amplicon-based Massively Parallel Sequencing

被引：4

作者：

Isaka, Mitsuhiro ^{[1
]}

Serizawa, Masakuni ^{[2
]}

Kenmotsu, Hirotsugu ^{[3
]}

Koh, Yasuhiro ^{[2
,4
]}

Takahashi, Shoji ^{[1
]}

Maniwa, Tomohiro ^{[1
]}

Wakuda, Kazushige ^{[3
]}

Ono, Akira ^{[3
]}

Naito, Tateaki ^{[3
]}

Murakami, Haruyasu ^{[3
]}

Mori, Keita ^{[5
]}

Endo, Masahiro ^{[6
]}

Abe, Masato ^{[7
]}

Hayashi, Isamu ^{[7
]}

Nakajima, Takashi ^{[7
]}

Yamamoto, Nobuyuki ^{[3
,4
]}

Takahashi, Toshiaki ^{[3
]}

Ohde, Yasuhisa ^{[1
]}

机构：

[1] Shizuoka Canc Ctr, Div Thorac Surg, Nagaizumi, Shizuoka, Japan

[2] Shizuoka Canc Ctr, Res Inst, Drug Discovery & Dev Div, Nagaizumi, Shizuoka, Japan

[3] Shizuoka Canc Ctr, Div Thorac Oncol, Nagaizumi, Shizuoka, Japan

[4] Wakayama Med Univ, Dept Internal Med 3, Wakayama, Japan

[5] Shizuoka Canc Ctr, Clin Trial Coordinat Off, Nagaizumi, Shizuoka, Japan

[6] Shizuoka Canc Ctr, Div Diagnost Radiol, Nagaizumi, Shizuoka, Japan

[7] Shizuoka Canc Ctr, Div Pathol, Nagaizumi, Shizuoka, Japan

来源：

CLINICAL LUNG CANCER | 2017年 / 18卷 / 05期

基金：

日本学术振兴会;

关键词：

Amplicon-based massively parallel sequencing; Genetic alterations; NSCLC; Surgical specimens; Transbronchial biopsy specimens; ONCOGENIC DRIVER MUTATIONS; SMOKERS VARIES; ADENOCARCINOMA; HETEROGENEITY; FREQUENCY; SUBTYPES;

D O I：

10.1016/j.cllc.2016.11.022

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

The present study investigated the accuracy of next-generation sequencing (NGS)-based mutational testing of transbronchial biopsy (TBB) specimens by comparing the mutational profiles of TBB and corresponding surgically resected specimens. The mutations detected in TBB specimens with sufficient amounts of DNA accounted for approximately 92% of those present in the surgically resected specimens. Thus, the accuracy of NGS-based mutational testing of TBB specimens is acceptable. Background: Amplicon-based massively parallel sequencing (MPS) is an effective platform for identifying clinically actionable mutations across many genes in limited amounts of tissue. Most lung cancers are diagnosed and staged using small tissue samples obtained by transbronchial biopsy (TBB). To determine whether the mutations in TBB specimens detected by amplicon-based MPS reflect those present in the tumors, we compared the mutational profiles of preoperative TBB specimens and corresponding surgically resected specimens. Patients and Methods: Fresh-frozen primary tumor specimens from nonesmall-cell lung cancer patients (n = 46) obtained preoperatively by TBB and during surgical resection were analyzed. The concordance of mutations detected by amplicon-based MPS in the 2 sample types was investigated, and the allele frequency of the mutations common to both specimens from the same patient was determined. Results: An initial assessment of DNA quantity revealed that 46% of the TBB specimens (21 of 46) had less than the lower limit for amplicon-based MPS. These 21 TBB specimens were consequently omitted from the analysis. Of the 29 mutations detected in the TBB and/ or surgically resected specimens from 25 patients, 23 were present in both samples, for a concordance rate of 79%. Conclusion: Amplicon-based MPS with TBB specimens approximately reflects clinically relevant tumor mutation profiles. However, the rate of TBB specimens with sufficient DNA quantity for amplicon-based MPS was only around 50%. Therefore, surgically resected specimens have a valuable role in exploratory and comprehensive genomic profiling.

引用

页码：519 / +

页数：9

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