Genetic alterations in endometrial cancer by targeted next-generation sequencing

被引：26
作者：
Chang, Ya-Sian [1 ,2 ]
Huang, Hsien-Da [3 ,4 ]
Yeh, Kun-Tu [5 ]
Chang, Jan-Gowth [1 ,2 ,6 ]
机构：
[1] China Med Univ Hosp, Epigenome Res Ctr, 2 Yuh Der Rd, Taichung 404, Taiwan
[2] China Med Univ Hosp, Dept Lab Med, Taichung, Taiwan
[3] Natl Chiao Tung Univ, Dept Biol Sci & Technol, Hsinchu, Taiwan
[4] Natl Chiao Tung Univ, Inst Bioinformat & Syst Biol, Hsinchu, Taiwan
[5] Changhua Christian Hosp, Dept Pathol, Changhua, Taiwan
[6] China Med Univ, Sch Med, Taichung, Taiwan
来源：
EXPERIMENTAL AND MOLECULAR PATHOLOGY | 2016年 / 100卷 / 01期
关键词：
Endometrial cancer; Next-generation sequencing; PTEN mutation; IL-7 signaling pathway; FOXO TRANSCRIPTION FACTORS; UTERINE SEROUS CARCINOMA; SOMATIC MUTATIONS; GENOMIC CHARACTERIZATION; SIGNALING PATHWAY; AKT KINASES; ACTIVATION; TUMORS; P85-ALPHA; PHENOTYPE;
D O I：
10.1016/j.yexmp.2015.11.026
中图分类号：
R36 [病理学];
学科分类号：
100104 ;
摘要：
Many genetic factors play important roles in the development of endometrial cancer. The aim of this study was to investigate genetic alterations in the Taiwanese population with endometrial cancer. DNA was extracted from 10 cases of fresh-frozen endometrial cancer tissue. The exomes of cancer-related genes were captured using the NimbleGen Comprehensive Cancer Panel (578 cancer-related genes) and sequenced using the Illumina Genomic Sequencing Platform. Our results revealed 120 variants in 99 genes, 21 of which were included in the Oncomine Cancer Research Panel used in the National Cancer Institute Match Trial. The 21 genes comprised 8 tumor suppressor candidates (AIM, MSH2, PIK3R1, PTCH1, PTEN, TET2, TP53, and TSC1) and 13 oncogene candidates (ALK, BCL9, CTNNB1, ERBB2, FGFR2, FLT3, HNF1A, KIT, MTOR, PDGFRA, PPP2R1A, PTPN11, and SF3B1). We identified a high frequency of mutations in PTEN (50%) and genes involved in the endometrial cancer-related molecular pathway, which involves the IL-7 signaling pathway (PIK3R1, n = 1; AKT2, n = 1; FOXO1, n = 1). We report the mutational landscape of endometrial cancer in the Taiwanese population. We believe that this study will shed new light on fundamental aspects for understanding the molecular pathogenesis of endometrial cancer and may aid in the development of new targeted therapies. (C) 2015 Elsevier Inc. All rights reserved.
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页码：8 / 12
页数：5
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