中国癌症杂志 ›› 2018, Vol. 28 ›› Issue (1): 50-54.doi: 10.19401/j.cnki.1007-3639.2018.01.007

• 论著 • 上一篇    下一篇

c-kit突变型与野生型胃肠道间质瘤中基因表达谱的鉴定

陈 杰1,王春萌2,罗 鹏2,杨凌舸2,师英强2   

  1. 1. 复旦大学附属肿瘤医院胃外科,复旦大学上海医学院肿瘤学系,上海 200032 ;
    2. 复旦大学附属肿瘤医院骨与软组织外科,复旦大学上海医学院肿瘤学系,上海 200032
  • 出版日期:2018-01-30 发布日期:2018-02-07
  • 通信作者: 王春萌 E-mail:cmwang1975@163.com

Gene expression profiling of c-kit wild type and mutant tumors in gastrointestinal stromal tumor

CHEN Jie1, WANG Chunmeng2, LUO Peng2, YANG Lingge2, SHI Yingqiang2   

  1. 1. Department of Gastric Surgery, Fudan University Shanghai Cancer Center, Department of Oncology, Shanghai Medical College, Fudan University, Shanghai 200032, China; 2. Department of Bone and Soft Tissue Sarcomas, Fudan University Shanghai Cancer Center, Department of Oncology, Shanghai Medical College, Fudan University, Shanghai 200032, China
  • Published:2018-01-30 Online:2018-02-07
  • Contact: WANG Chunmeng E-mail: cmwang1975@163.com

摘要: 背景与目的:胃肠道间质瘤(gastrointestinal stromal tumor,GIST)是最常见的胃肠道间质肿瘤。GIST概念提出以后,因为其独特的分子生物学及临床特征,而受到广泛的关注。在大部分的GIST中,都发现了c-kit的突变。但是对于c-kit在胃肠道间质中的分子机制仍然知之甚少。该研究旨在从表达谱水平宏观了解c-kit突变对于肿瘤的影响。方法:收集c-kit突变型与野生型GIST样本,抽提RNA,建库,进行RNA测序。对差异表达的基因进行富集分析。结果:c-kit突变型与野生型患者中表达谱存在差异,发现了263个显著性差异的基因。结论:c-kit的突变广泛参与肿瘤的各种生物学过程与信号通路。由c-kit突变引起的差异表达基因主要富集在内质网应激、JNK、Hedgehog、FoxO等信号通路中,以及谷氨酰胺、谷氨酸代谢、mRNA代谢、组蛋白去甲基化等生物学过程。

关键词: 胃肠道间质瘤, RNA测序, 基因突变

Abstract: Background and purpose: Gastrointestinal stromal tumor (GIST) is the most common mesenchymal of the gastrointestinal tract. Since the concept of GIST has been raised, it has received a lot of attention, because of its unique molecular and clinical features. c-kit mutations could be found in most of the gastrointestinal stromal tumors. However, the molecular effect of this mutation remains unclear. This study aimed to explore the effect of c-kit mutation on GIST from gene expression profiling. Methods: c-kit wild type and c-kit mutant GIST samples were collected. These samples were used to extract RNA and build libraries for RNA sequencing. Gene enrichment analysis was performed using the differentially expressed genes. Results: Expression profiles between c-kit mutant and wildtype patients revealed 263 genes with significant differences. Conclusion: c-kit mutation is widely involved in various biological processes and signaling pathways of tumors. The differentially expressed genes caused by c-kit mutations are enriched in several signaling pathways, such as endoplasmic reticulum stress, JNK, Hedgehog, FoxO signaling pathways, as well as glutamine, glutamic acid metabolism, mRNA metabolism, histone demethylation processes.

Key words: Gastrointestinal stromal tumor, RNA sequencing, gene mutation