胃肠间质瘤基因突变分析及外周血中ctDNA的探索性研究
发布时间：2018-09-03 13:02
【摘要】：目的：分析胃肠间质瘤的基因突变情况,探讨其常见的突变类型及肿瘤原发部位的关系;检测胃肠间质瘤患者外周血中是否存在循环肿瘤DNA,并进行定量分析。方法：回顾性分析2014年9月到2015年12月于解放军总医院诊断及治疗的70例胃肠间质瘤患者的基因突变及其病理情况。分析胃肠间质瘤基因突变的常见类型及与肿瘤原发部位、肿瘤大小、核分裂象的关系,运用高通量测序(NGS)的方法对于我院诊断治疗的13名胃肠间质瘤患者的外周血进行ctDNA的检测,并进行定量分析,探讨GIST外周血中ctDNA的含量与肿瘤原发部位、NIH危险度分级、体内是否带瘤等因素是否相关,应用SPSS20.0统计软件对各项统计指标进行分析,计数资料采用X2检验。结果：纳入研究的胃肠间质瘤患者男女比为1.8：1,平均年龄54.3岁,发病部位胃34例(48.6%),十二指肠6例(8.6%),小肠19例(27.1%),结肠2例(2.9%),直肠3例(4.3%),其他6例(8.6%)。NIH分级：高危45例(64.3%),中危21例(30%),低危3例(4.3%),极低危1例(1.4%),C-KIT总突变率87.1%,,PDGFRA总突变率5.7%,WT-GIST总突变率7.2%。。C-KIT基因突变中的外显子11、9、13的构成因素之间具有统计学意义(P0.05),11外显子突变的肿瘤位置的构成因素之间具有统计学意义(P0.05)。基因突变的类型与肿瘤大小、核分裂象没有明显的相关性。接受检测的13例胃肠间质瘤患者中,外周血中检测到ctDNA的患者有10例,阴性者3例。高危患者中检测到7例,中危患者中检测到3例;2ml血浆中ctDNA突变拷贝数为0-106.7,突变拷贝数≥5的有3例,突变拷贝数≥20的有2例。高危组中患者外周血中ctDNA的量要高于中危组的,肝转移患者外周血中的ctDNA含量高于无肝转移的患者。结论：C-KIT中外显子突变以1]外显子错义突变最常见,肿瘤部位常见于胃和小肠;基因突变类型与肿瘤的原发部位之间有相关性,而与肿瘤的大小、核分裂像没有明显的相关性。胃肠间质瘤外周血中可以检测到ctDNA,并可进行定量分析;肿瘤部位、NIH危险度分级、疾病状态等可能是外周血中ctDNA含量的影响因素。
[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，
本文编号：2220054
[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，
本文编号：2220054
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