179例胃肠间质瘤临床病理特征及基因突变类型分析
发布时间：2018-08-25 17:10
【摘要】：目的分析胃肠间质瘤(GIST)患者临床病理特征、基因突变类型和突变位点特征。方法回顾性收集2009年9月至2015年2月四川大学华西医院收治的179例行基因检测的GIST患者并分析其各临床病理资料的特征。结果所有患者中,肿瘤原发于胃88例(49.2%),小肠70例(39.1%),结直肠7例(3.9%),其它部位14例(7.8%);其中CD117、CD34、DOG-1阳性率分别为为94.4%、74.9%、93.3%。GIST患者基因突变c-kit突变最为常见,共151例(84.4%),其次为PDGFRα突变8例(4.5%),野生型20例(11.2%)。c-kit突变中,外显子11以缺失突变、点突变及缺失+插入突变为主(92.2%);外显子9突变共有6例(30%)A502-Y503复制突变及14例(70%)Y403-F504插入突变;外显子13突变为1例K642Q点突变,外显子17突变为2例N822K点突变。在6例PDGFRα外显子18突变患者中,分别有5例和1例发生点突变和缺失突变,点突变中3例为D842V突变。在GIST的基因分型中,PDGFRα突变患者DOG-1阳性率低于c-kit突变及野生型患者(P=0.007),而在c-kit各突变类型中,点突变患者CD34患者阳性率低于其它突变类型(P0.001),点突变和插入突变患者中高危患者比例低于缺失突变和缺失+插入突变(P=0.006)。结论胃和小肠是GIST最常见的发病部位;c-kit外显子11是GIST最常见的基因突变类型;GIST基因突变率高且突变类型多样,不同患者需提供个体化治疗。
[Abstract]:Objective to analyze the clinicopathological features, gene mutation types and mutation loci of gastrointestinal stromal tumors (GIST) patients with (GIST). Methods from September 2009 to February 2015, 179 GIST patients who were admitted to Huaxi Hospital of Sichuan University were retrospectively collected and their clinicopathological data were analyzed. Results among all the patients, 88 cases (49.2%) had primary tumors in the stomach, 70 cases (39.1%) in the small intestine, 7 cases (3.9%) in the colon and rectum, and 14 cases (7.8%) in other parts. The positive rates of CD117,CD34,DOG-1 were 94.4% (74.9%) and 93.33% (P < 0.05), respectively. There were 151 cases (84.4%), followed by 8 cases (4.5%) of PDGFR 伪 mutation, and 20 cases (11.2%) of wild-type mutation. Exon 11 was mainly deletion mutation, point mutation and deletion insertion mutation (92.2%), exon 9 mutation was 6 cases (30%) A502-Y503 replication mutation and Y403-F504 insertion mutation in 14 cases (70%), exon 9 mutation in 6 cases (30%) and Y403-F504 insertion mutation in 14 cases (70%), exon 9 mutation was found in 6 cases (30%) and Y403-F504 insertion mutation in 14 cases (70%). Exon 13 mutation was one K642Q point mutation, exon 17 mutation was N822K point mutation in 2 cases. In 6 patients with PDGFR 伪 exon 18 mutation, 5 cases and 1 case had point mutation and deletion mutation respectively, and 3 cases of point mutation were D842V mutation. In GIST genotyping, the positive rate of DOG-1 in patients with PDGFR 伪 mutation was lower than that in c-kit mutation and wild-type patients (P0. 007). The positive rate of CD34 in point mutation patients was lower than that in other mutation types (P0. 001), and the proportion of high risk patients with point mutation and insertion mutation was lower than that of deletion mutation and deletion insertion mutation (P0. 006). Conclusion gastric and small intestine are the most common site of GIST. Exon 11 of c-kit is the most common gene mutation type of GIST. The mutation rate of GIST gene is high and the mutation types are various. Different patients need to provide individualized treatment.
【作者单位】： 四川大学华西医院胃肠外科;四川大学华西医院病理科;
【基金】：国家自然科学基金(No.81572931) 四川省科技厅科技支撑计划项目(No.2012SZ0006)资助
【分类号】：R735
，
本文编号：2203554
[Abstract]:Objective to analyze the clinicopathological features, gene mutation types and mutation loci of gastrointestinal stromal tumors (GIST) patients with (GIST). Methods from September 2009 to February 2015, 179 GIST patients who were admitted to Huaxi Hospital of Sichuan University were retrospectively collected and their clinicopathological data were analyzed. Results among all the patients, 88 cases (49.2%) had primary tumors in the stomach, 70 cases (39.1%) in the small intestine, 7 cases (3.9%) in the colon and rectum, and 14 cases (7.8%) in other parts. The positive rates of CD117,CD34,DOG-1 were 94.4% (74.9%) and 93.33% (P < 0.05), respectively. There were 151 cases (84.4%), followed by 8 cases (4.5%) of PDGFR 伪 mutation, and 20 cases (11.2%) of wild-type mutation. Exon 11 was mainly deletion mutation, point mutation and deletion insertion mutation (92.2%), exon 9 mutation was 6 cases (30%) A502-Y503 replication mutation and Y403-F504 insertion mutation in 14 cases (70%), exon 9 mutation in 6 cases (30%) and Y403-F504 insertion mutation in 14 cases (70%), exon 9 mutation was found in 6 cases (30%) and Y403-F504 insertion mutation in 14 cases (70%). Exon 13 mutation was one K642Q point mutation, exon 17 mutation was N822K point mutation in 2 cases. In 6 patients with PDGFR 伪 exon 18 mutation, 5 cases and 1 case had point mutation and deletion mutation respectively, and 3 cases of point mutation were D842V mutation. In GIST genotyping, the positive rate of DOG-1 in patients with PDGFR 伪 mutation was lower than that in c-kit mutation and wild-type patients (P0. 007). The positive rate of CD34 in point mutation patients was lower than that in other mutation types (P0. 001), and the proportion of high risk patients with point mutation and insertion mutation was lower than that of deletion mutation and deletion insertion mutation (P0. 006). Conclusion gastric and small intestine are the most common site of GIST. Exon 11 of c-kit is the most common gene mutation type of GIST. The mutation rate of GIST gene is high and the mutation types are various. Different patients need to provide individualized treatment.
【作者单位】： 四川大学华西医院胃肠外科;四川大学华西医院病理科;
【基金】：国家自然科学基金(No.81572931) 四川省科技厅科技支撑计划项目(No.2012SZ0006)资助
【分类号】：R735
，
本文编号：2203554
本文链接：https://www.wllwen.com/kejilunwen/jiyingongcheng/2203554.html
最近更新
教材专著
