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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


Video abstract presented by Qiong Chen.

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Qiong Chen,1 Rong Li,2 Zhi-Gao Zhang,1 Qiao-Ting Deng,1 Kun Li,1 Hao Wang,1 Xue-Xi Yang,1 Ying-Song Wu1

1School of Laboratory Medicine and Biotechnology, Southern Medical University, Guangzhou, People’s Republic of China; 2Department of Tumor, Nanfang Hospital, Southern Medical University, Guangzhou, People’s Republic of China


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

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