【摘要】：目的：分析胃腸間質(zhì)瘤的基因突變情況,探討其常見的突變類型及腫瘤原發(fā)部位的關(guān)系;檢測胃腸間質(zhì)瘤患者外周血中是否存在循環(huán)腫瘤DNA,并進(jìn)行定量分析。方法：回顧性分析2014年9月到2015年12月于解放軍總醫(yī)院診斷及治療的70例胃腸間質(zhì)瘤患者的基因突變及其病理情況。分析胃腸間質(zhì)瘤基因突變的常見類型及與腫瘤原發(fā)部位、腫瘤大小、核分裂象的關(guān)系,運用高通量測序(NGS)的方法對于我院診斷治療的13名胃腸間質(zhì)瘤患者的外周血進(jìn)行ctDNA的檢測,并進(jìn)行定量分析,探討GIST外周血中ctDNA的含量與腫瘤原發(fā)部位、NIH危險度分級、體內(nèi)是否帶瘤等因素是否相關(guān),應(yīng)用SPSS20.0統(tǒng)計軟件對各項統(tǒng)計指標(biāo)進(jìn)行分析,計數(shù)資料采用X2檢驗。結(jié)果：納入研究的胃腸間質(zhì)瘤患者男女比為1.8：1,平均年齡54.3歲,發(fā)病部位胃34例(48.6%),十二指腸6例(8.6%),小腸19例(27.1%),結(jié)腸2例(2.9%),直腸3例(4.3%),其他6例(8.6%)。NIH分級：高危45例(64.3%),中危21例(30%),低危3例(4.3%),極低危1例(1.4%),C-KIT總突變率87.1%,,PDGFRA總突變率5.7%,WT-GIST總突變率7.2%。。C-KIT基因突變中的外顯子11、9、13的構(gòu)成因素之間具有統(tǒng)計學(xué)意義(P0.05),11外顯子突變的腫瘤位置的構(gòu)成因素之間具有統(tǒng)計學(xué)意義(P0.05)�；蛲蛔兊念愋团c腫瘤大小、核分裂象沒有明顯的相關(guān)性。接受檢測的13例胃腸間質(zhì)瘤患者中,外周血中檢測到ctDNA的患者有10例,陰性者3例。高�；颊咧袡z測到7例,中危患者中檢測到3例;2ml血漿中ctDNA突變拷貝數(shù)為0-106.7,突變拷貝數(shù)≥5的有3例,突變拷貝數(shù)≥20的有2例。高危組中患者外周血中ctDNA的量要高于中危組的,肝轉(zhuǎn)移患者外周血中的ctDNA含量高于無肝轉(zhuǎn)移的患者。結(jié)論：C-KIT中外顯子突變以1]外顯子錯義突變最常見,腫瘤部位常見于胃和小腸;基因突變類型與腫瘤的原發(fā)部位之間有相關(guān)性,而與腫瘤的大小、核分裂像沒有明顯的相關(guān)性。胃腸間質(zhì)瘤外周血中可以檢測到ctDNA,并可進(jìn)行定量分析;腫瘤部位、NIH危險度分級、疾病狀態(tài)等可能是外周血中ctDNA含量的影響因素。
[Abstract]:Objective: to analyze the gene mutation of gastrointestinal stromal tumors (GIST), to explore the relationship between the common mutation types and the primary location of GIST, and to detect the existence of circulating tumor DNA, in the peripheral blood of GIST patients and to make quantitative analysis. Methods: 70 patients with gastrointestinal stromal tumors diagnosed and treated in PLA General Hospital from September 2014 to December 2015 were analyzed retrospectively. To analyze the common types of gene mutations in gastrointestinal stromal tumors (GIST) and their relationship with the primary location, tumor size and mitotic appearance of gastrointestinal stromal tumors (GIST). High throughput sequencing (NGS) was used to detect ctDNA in peripheral blood of 13 patients with gastrointestinal stromal tumor (GIST) diagnosed and treated in our hospital. SPSS20.0 software was used to analyze the statistical indexes and the counting data were analyzed by X2 test. Results: the male to female ratio of GIST patients in the study was 1.8: 1, with an average age of 54.3 years. Stomach 34 cases (48.6%), duodenum 6 cases (8.6%), small intestine 19 cases (27.1%), colon 2 cases (2.9%), rectum 3 cases (4.3%), other 6 cases (8.6%). NIH grade: high risk 45 cases (64.3%), moderate risk 21 cases (30%), low risk 3 cases (4.3%), extremely low risk 1 case (1.4%) total mutation rate of PDGFRA 5.7T WT-GIST Mutation rate of 7.2%..C-KIT gene mutation in the exon 11N9F13 was statistically significant (P0.05). There was statistical significance among the factors of tumor location of exon 11 mutation (P0.05). There was no significant correlation between the type of gene mutation and tumor size and mitotic image. Of the 13 cases of gastrointestinal stromal tumors, 10 cases were detected ctDNA in peripheral blood and 3 cases were negative. In the high risk patients, 7 cases were detected, and 3 cases were detected in 2 ml of middle risk patients with ctDNA mutation copy number of 0-106.7, 3 cases with mutation copy number 鈮，

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