【摘要】：目的分析胃腸間質(zhì)瘤(GIST)患者臨床病理特征、基因突變類型和突變位點(diǎn)特征。方法回顧性收集2009年9月至2015年2月四川大學(xué)華西醫(yī)院收治的179例行基因檢測(cè)的GIST患者并分析其各臨床病理資料的特征。結(jié)果所有患者中,腫瘤原發(fā)于胃88例(49.2%),小腸70例(39.1%),結(jié)直腸7例(3.9%),其它部位14例(7.8%);其中CD117、CD34、DOG-1陽(yáng)性率分別為為94.4%、74.9%、93.3%。GIST患者基因突變c-kit突變最為常見,共151例(84.4%),其次為PDGFRα突變8例(4.5%),野生型20例(11.2%)。c-kit突變中,外顯子11以缺失突變、點(diǎn)突變及缺失+插入突變?yōu)橹?92.2%);外顯子9突變共有6例(30%)A502-Y503復(fù)制突變及14例(70%)Y403-F504插入突變;外顯子13突變?yōu)?例K642Q點(diǎn)突變,外顯子17突變?yōu)?例N822K點(diǎn)突變。在6例PDGFRα外顯子18突變患者中,分別有5例和1例發(fā)生點(diǎn)突變和缺失突變,點(diǎn)突變中3例為D842V突變。在GIST的基因分型中,PDGFRα突變患者DOG-1陽(yáng)性率低于c-kit突變及野生型患者(P=0.007),而在c-kit各突變類型中,點(diǎn)突變患者CD34患者陽(yáng)性率低于其它突變類型(P0.001),點(diǎn)突變和插入突變患者中高�；颊弑壤陀谌笔蛔兒腿笔�+插入突變(P=0.006)。結(jié)論胃和小腸是GIST最常見的發(fā)病部位;c-kit外顯子11是GIST最常見的基因突變類型;GIST基因突變率高且突變類型多樣,不同患者需提供個(gè)體化治療。
[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 偽 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 偽 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 偽 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.
【作者單位】： 四川大學(xué)華西醫(yī)院胃腸外科;四川大學(xué)華西醫(yī)院病理科;
【基金】：國(guó)家自然科學(xué)基金(No.81572931) 四川省科技廳科技支撐計(jì)劃項(xiàng)目(No.2012SZ0006)資助
【分類號(hào)】：R735
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本文編號(hào)：2203554