机构：[1]Shanghai Key Laboratory for Endocrine Tumors, Shanghai Clinical Center for Endocrine and Metabolic Diseases, Shanghai Institute of Endocrine and Metabolic Diseases and Shanghai E-institute for Endocrinology, Ruijin Hospital, Shanghai Jiao Tong University, School of Medicine, 197 Ruijin 2nd Road, Shanghai 200025, China.[2]Department of Laboratory Medicine, Precision Medicine Center, State Key Laboratory of Biotherapy and Precision Medicine Key Laboratory of Sichuan Province, West China Hospital, Sichuan University and Collaborative Innovation Center, Chengdu 610041, China.[3]Department of Pathology, Ruijin Hospital, Shanghai Jiao Tong University, School of Medicine, 197 Ruijin 2nd Road, Shanghai 200025, China.[4]Laboratory for Endocrine & Metabolic Diseases of Institute of Health Science, Shanghai Jiao Tong University School of Medicine and Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, 227 South ChongQing Road, Shanghai 200025, China.
The genomic alterations for benign thyroid nodule, especially adenomatoid nodule, one of the most common types of hyperplasia lesion, are ill-studied. Here, we show whole-exome sequencing and/or transcriptome sequencing data on adenomatoid nodules with or without coincidental papillary thyroid carcinoma (PTC). Somatic mutation of BRAF (22/32) is only detected in PTC, while mutations in SPOP (4/38), ZNF148 (6/38) and EZH1 (3/38) are found enriched in adenomatoid nodule. In an expanded cohort of adenomatoid nodule (n=259) mutually exclusive SPOPP94R, EZH1Q571R and ZNF148 mutations are identified in 24.3% of them. Adenomatoid nodules show very few overlapped mutations and distinct gene expression patterns with their coincidental PTC. Phylogenetic tree analysis uncovers that PTCs evolved independently from their matched benign nodules. Our findings reveal that benign nodules possess a unique molecular signature that differs from PTC and provide genomic evidence for the conventional belief that PTC and benign nodules have independent origin.
基金：
National Science Foundation of ChinaNational Natural Science Foundation of China [81,570,702, 81,402,212, 81,400,772, 81,500,604, 81,130,016, 81,270,872]
语种：
外文
WOS：
PubmedID：
中科院(CAS)分区：
出版当年[2017]版：
大类|1 区综合性期刊
小类|1 区综合性期刊
最新[2023]版：
大类|1 区综合性期刊
小类|1 区综合性期刊
第一作者：
第一作者机构：[1]Shanghai Key Laboratory for Endocrine Tumors, Shanghai Clinical Center for Endocrine and Metabolic Diseases, Shanghai Institute of Endocrine and Metabolic Diseases and Shanghai E-institute for Endocrinology, Ruijin Hospital, Shanghai Jiao Tong University, School of Medicine, 197 Ruijin 2nd Road, Shanghai 200025, China.
共同第一作者：
通讯作者：
通讯机构：[1]Shanghai Key Laboratory for Endocrine Tumors, Shanghai Clinical Center for Endocrine and Metabolic Diseases, Shanghai Institute of Endocrine and Metabolic Diseases and Shanghai E-institute for Endocrinology, Ruijin Hospital, Shanghai Jiao Tong University, School of Medicine, 197 Ruijin 2nd Road, Shanghai 200025, China.
推荐引用方式(GB/T 7714)：
Ye Lei,Zhou Xiaoyi,Huang Fengjiao,et al.The genetic landscape of benign thyroid nodules revealed by whole exome and transcriptome sequencing.[J].Nature communications.2017,8:15533.doi:10.1038/ncomms15533.
APA：
Ye Lei,Zhou Xiaoyi,Huang Fengjiao,Wang Weixi,Qi Yicheng...&Wang Weiqing.(2017).The genetic landscape of benign thyroid nodules revealed by whole exome and transcriptome sequencing..Nature communications,8,
MLA：
Ye Lei,et al."The genetic landscape of benign thyroid nodules revealed by whole exome and transcriptome sequencing.".Nature communications 8.(2017):15533
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