Genetic profiling of thymic carcinoma using targeted next-generation sequencing

被引：29

作者：

Shitara, Masayuki ^{[1
]}

Okuda, Katsuhiro ^{[1
]}

Suzuki, Ayumi ^{[1
]}

Tatematsu, Tsutomu ^{[1
]}

Hikosaka, Yu ^{[1
]}

Moriyama, Satoru ^{[1
]}

Sasaki, Hidefumi ^{[1
]}

Fujii, Yoshitaka ^{[1
]}

Yano, Motoki ^{[1
]}

机构：

[1] Nagoya City Univ, Grad Sch Med Sci, Dept Oncol Immunol & Surg, Nagoya, Aichi 4678601, Japan

来源：

LUNG CANCER | 2014年 / 86卷 / 02期

基金：

日本学术振兴会;

关键词：

Thymic carcinoma; Squamous cell carcinoma; Targeted next-generation sequencing; Genetic profiling; Tyrosine kinase gene mutation; Heterogeneous; EPITHELIAL TUMORS; EXPRESSION; MUTATION; KIT; RECEPTOR; THYMOMA; THERAPY; HEAD; P53;

D O I：

10.1016/j.lungcan.2014.08.020

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Objectives: Thymic carcinoma is a rare mediastinal neoplasm and little is known about its tumorigenesis. There is no effective treatment except for complete resection, and the prognosis of advanced cases is poor. To identify the mutations associated with tumorigenesis, we analyzed genetic profile of thymic carcinoma using targeted next-generation sequencing. Materials and methods: We sequenced about 409 cancer-related genes in 12 thymic squamous cell carcinoma tissues including 10 tumor/normal tissue pairs using Ion AmpliSeq Cancer Panel and Ion PGM Sequencer. We filtered the mutations with Ingenuity Variant Analysis, SIFT, PolyPhen-2, and PROVEAN. Results and conclusion: Twenty-five candidate mutations in 24 genes were identified, including five tyrosine kinase genes (KIT, DDR2, PDGFRA, ROS1, IGF1R). There was no recurrent mutation among the samples studied. The KIT exon 11 deletion mutation in 1 patient was an activating mutation and may be an oncogenic driver mutation. Genetic profiling of thymic carcinoma using targeted next-generation sequencing was performed. The mutation status of thymic squamous cell carcinoma is highly heterogeneous. (C) 2014 Elsevier Ireland Ltd. All rights reserved.

引用

页码：174 / 179

页数：6

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