3 7 0 7 3

论文已发表


注册即可获取德孚的最新动态



IF 收录期刊





更多详情 >>



会员计划

我们很高兴为机构提供一种切实的方法以支持开放获取并鼓励教师和研究人员通过开放获取模式尽可能广泛地传播他们的作品。

更多详情 >>

 

加入德孚官方微信,即可享受论文费用7.5折

视频

Oncogene mutational analysis in Chinese gastrointestinal stromal tumor patients

 

Authors Chen Q, Li R, Zhang Z, Deng Q, Li K, Wang H, Yang X, Wu Y

Received 26 October 2017

Accepted for publication 4 January 2018

Published 20 April 2018 Volume 2018:11 Pages 2279—2286

DOI https://doi.org/10.2147/OTT.S155214

Checked for plagiarism Yes

Review by Single-blind

Peer reviewers approved by Dr Amy Norman

Peer reviewer comments 2

Editor who approved publication: Dr Ingrid Espinoza

Background: Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors and exhibit a high frequency of oncogenic KIT  or PDGFRA  mutations. Tyrosine kinase inhibitors (TKIs) have been mainly used in the treatment of GISTs bearing KIT/PDGFRA  mutations. However, other mutation profiles have been found to affect the sensitivity to and effectiveness of TKIs in the treatment of GISTs. 
Purpose: The aim of the present study was to describe the mutational status of multiple genes in GIST samples and to provide information for finding potential predictive markers of therapeutic targets in Chinese GIST patients. 
Patients and methods: MassARRAY spectrometry was used to test 40 Chinese GIST patients for 238 mutations affecting 19 oncogenes. 
Results: A total of 14 oncogenes with 43 mutations were detected in 38 samples, with a mutation frequency of 95%. Among these mutation samples, 26 GISTs were found for KIT  or PDGFRA  mutations, while 12 were KIT/PDGFRA  wild-type. Approximately half of the GIST samples harbored multiple mutations. The most frequent mutations were found in KIT  (62.5%), CDK4  (17.5%), NRAS  (15%) and EGFR  (12.5%). Other mutations included PIK3CA  and AKT1  (10%), BRAF  and ABL1  (7.5%), PDGFRA ERBB2  and HRAS  (5%), and AKT2 FLT3  and KRAS  (2.5%). New mutated genes (CDK4 AKT2 FLT3 ERBB2 ABL1  and AKT1 ), a higher BRAF  mutation frequency (7.5%) and new BRAF mutation sites (G464E) were found in Chinese GIST patients.
Conclusion: This study demonstrated useful mutations in a small fraction of Chinese GIST, but targeted therapeutics on these potential predictive markers need to be investigated in depth especially in Oriental populations.
Keywords: gastrointestinal stromal tumor (GIST), mutation, tyrosine kinase receptor, oncogene



摘要视频链接Mutational analysis in gastrointestinal stromal tumor