Analysis of gene and targeted therapy for 340 patients with gastrointestinal stromal tumor
10.3760/cma.j.issn.1006-9801.2015.11.009
- VernacularTitle:胃肠道间质瘤340例基因及靶向治疗分析
- Author:
Linde SUN
;
Jing ZHANG
;
Lin LIU
;
Wuyao YANG
;
Wentong XU
- Publication Type:Journal Article
- Keywords:
Gastrointestinal stromal tumors;
Mutation;
Molecular targeted therapy
- From:
Cancer Research and Clinic
2015;27(11):754-756
- CountryChina
- Language:Chinese
-
Abstract:
Objective To investigate clinical and pathological features of gastrointestinal stromal tumors,the frequency and type of mutation of c-kit and platelet-derived growth factor receptor α (PDGFRA)genes.Methods 340 patients underwent surgical resection and diagnosed as gastrointestinal stromal tumors by postoperative pathology from Junuary 2012 to December 2014 were enrolled,and their tumor tissues were collected.The direct sequencing method was applied to detect the mutation status of c-kit gene (exon 9,11,13 and 17) and PDGFRA gene (exon12 and 18).Results There were 138 males and 192 females,and their median age was 58 years old (37-81 years old).There were 178 patients (52.4 ％) with gastric stromal tumors,21 cases (6.2 ％) with duodenal stromal tumors,82 cases (24.1％) with small intestinal stromal tumor,10 cases (2.9 ％) with colon stromal tumor,15 cases (4.4 ％) with rectal stromal tumors,30 cases (8.8 ％) with parenteral stromal tumor (from the peritoneum,mesentery,retroperitoneum or attachment),4 cases (1.2 ％) of liver tissues (gene detection tissues from the liver biopsy or surgical resection specimens).In the mutation analysis of all 340 patients with gastrointestinal stromal tumor,the total mutation rate was 89.4 ％ (304/340),including 81.2 ％ (276 cases) of c-kit,8.2 ％ (28 cases) of PDGFR and 10.6 ％ (36 cases) of wild type.Among 125 cases underwent the detection of the gene mutation sequences,there were 49 cases of exon11 deletion mutation,4 cases of exon11 insertion mutation,12 cases of exon 11 missense mutation,8 cases of exon9 insertion mutation,1 case of 3xon13 missense mutation,1 case of exon17 missense mutation,24 cases of exon12 synonymous mutation and 20 cases of exon18 synonymous mutation.Conclusions Gene detection is becoming more and more obvious in predicting the therapeutic effect of molecular targeted therapy,the mechanism of drag resistance and the clinical treatment,c-kit exon11 mutation is one of the most common gene mutation types related to the choice of targeted medicine.
