| 携带同源重组修复相关基因突变的消化道肿瘤的临床特点 |
| |
| 引用本文： | 郑晓娟,' target='_blank'>,王兴元.携带同源重组修复相关基因突变的消化道肿瘤的临床特点[J].现代肿瘤医学,2022,0(14):2558-2563. |
| |
| 作者姓名： | 郑晓娟 ' target='_blank'> 王兴元 |
| |
| 作者单位： | 1.国家癌症中心/北京协和医学院/中国医学科学院肿瘤医院内科，北京 100021；2.国家癌症中心/国家肿瘤临床医学研究中心/河北中国医学科学院肿瘤医院，河北 廊坊 065001 |
| |
| 摘 要： | 目的:探讨消化道肿瘤中同源重组修复相关基因(homologous recombination repair related gene，HRR)突变的发生情况及临床意义。方法:共92例消化道肿瘤患者，79例患者进行了血液标本HRR检测，53例患者进行了组织标本HRR检测，40例患者同时行血液和组织的HRR基因检测，收集患者基因检测结果及临床相关资料。结果:在79例患者血液标本检测中发现10例（12.6%）有临床意义HRR突变，在53例患者组织标本检测中发现9例（17.0%）有临床意义HRR突变。40例同时行血液和组织的HRR基因检测患者中常见的有临床意义HRR突变为CDK12突变4例（10.0%）、ATM突变3例（7.5%）、BRCA1突变2例（5.0%）。13例有临床意义HRR突变患者中常见共存突变为TP53突变10例（76.9%）、APC突变5例（38.5%）、PIK3CA突变4例（30.8%）。40例患者中13例患者血液和/或组织中有临床意义HRR突变，27例患者血液和组织中均无任何临床意义HRR突变且两组相比，有临床意义HRR突变组肿瘤突变负荷（tumor mutational burden，TMB）为6.17(2.24～11.52)，而未携带HRR突变组TMB为0.4(0～3.75)，差异有统计学意义（P＜0.05）。40例患者组织检测中7例HRR有临床意义的突变，33例无HRR突变，血液检测中10例HRR有临床意义的突变，30例无HRR突变，一致性检验的Kappa值为0.333（P=0.031）。结论:携带有临床意义HRR突变的消化道肿瘤患者TMB更高，血液和组织检测HRR突变有较好的一致性。
|
| 关 键 词： | 同源重组修复相关基因突变 消化道肿瘤 肿瘤突变负荷 一致性 |
Clinical features of digestive tract tumors carrying homologous recombination repair related gene mutations |
| |
| ZHENG Xiaojuan,' target='_blank'>,WANG Xingyuan.Clinical features of digestive tract tumors carrying homologous recombination repair related gene mutations[J].Journal of Modern Oncology,2022,0(14):2558-2563. |
| |
| Authors: | ZHENG Xiaojuan ' target='_blank'> WANG Xingyuan |
| |
| Affiliation: | 1.Department of Oncology,Cancer Hospital,Chinese Academy of Medical Sciences/Peking Union Medical College/National Cancer Center,Beijing 100021,China;2.Hebei Cancer Hospital,Chinese Academy of Medical Sciences/National Cancer Clinical Research Center/National Cancer Center,Hebei Langfang 065001,China. |
| |
| Abstract: | Objective:To investigate the occurrence and clinical significance of homologous recombination repair related gene (HRR) mutations in digestive tract tumors.Methods:A total of 92 patients with digestive tract tumors were enrolled.79 patients were tested for HRR in blood samples.53 patients were tested for HRR in tissue samples,and 40 patients were tested for HRR in blood and tissue samples at the same time.The genetic test results and clinical data were collected.Results:Clinically significant HRR mutations were found in 10 cases (12.6%) of 79 cases of blood samples and 9 cases (17.0%) of 53 cases of tissue samples.Common clinically significant HRR mutations in 40 patients who underwent blood and tissue HRR gene testing were CDK12 mutation in 4 patients (10.0%),ATM mutation in 3 patients (7.5%) and BRCA1 mutation in 2 patients (5.0%).Among the 13 patients with clinically significant HRR mutations,10 patients (76.9%) had TP53 mutation,5 patients (38.5%) for APC mutation,and 4 patients (30.8%) for PIK3CA mutation.13 patients of the 40 patients had clinically significant HRR mutations in their blood and/or tissue,and 27 patients had no clinically significant HRR mutations in their blood and tissue.The tumor mutational burden (TMB) of the clinically significant HRR mutation group was 6.17(2.24～11.52),and the TMB of the group without HRR mutation was 0.4(0～3.75).The difference was statistically significant (P＜0.05).Among the 40 patients,7 patients had clinically significant HRR mutations in tissue test.33 patients had no tissue HRR mutations.10 patients had clinically significant HRR mutations in blood test,and 30 patients had no blood HRR mutations.The Kappa value of consistency test was 0.333 (P=0.031).Conclusion:Digestive tract tumor patients with homologous recombination repair related gene mutations have higher TMB,and there is a good consistency between blood and tissue HRR mutations. |
| |
| Keywords: | homologous recombination repair related gene mutation digestive tract tumors tumor mutational burden consistency |
|
| 点击此处可从《现代肿瘤医学》浏览原始摘要信息 |
|
点击此处可从《现代肿瘤医学》下载全文 |
