FLT3-ITD突变的等位基因比值与急性髓系白血病临床特征及疗效的关系分析

发布时间：2018-05-06 09:38

本文选题：急性髓系白血病 + FLT3-ITD　；参考：《北京协和医学院》2017年硕士论文

【摘要】：[目的]评价FLT3-ITD突变等位基因比率(Allelic Ratio,AR)与各项临床指标及疗效之间的相互关系。[方法]采集2016年6月～2017年3月期间中国医学科学院血液病医院检测的62位初治急性髓系白血病(Acute Myeloid Leukemia,AML)患者骨髓单个核细胞,使用PCR技术扩增FLT3基因的14至15号外显子区域,对PCR产物行琼脂糖凝胶电泳,GIS分析软件采集各条带净光密度值,进一步计算ITD的AR值:突变型净光密度值/野生型净光密度值。回顾性分析其中42例初治原发AML患者临床资料,进一步分析FLT3-ITD患者的AR值与性别、年龄,白细胞数、红细胞数、血红蛋白、血小板及外周血原始细胞数、骨髓原始细胞数,以及PML-RARA、AML1-ETO等融合基因和染色体核型、基因突变NPM1、DNMT3A和治疗缓解情况的关系,找到有意义的阈值。[结果]62例AML患者的AR范围为0.12-3.55,中位值1.06;对于42例有临床资料的初治AML患者,高AR组(AR1.3)完全缓解(CR)率30%,显著低于低AR组的75%(P=0.027),对于33例非APL的初治AML患者,有相同的结果,高AR组缓解率25%,低AR组缓解率68%(P=0.048)。两组在性别、年龄、其他血细胞计数及染色体异常、其他基因突变伴发等方面无明显差异。[结论]FLT3-ITD突变AR值大于1.3者完全缓解率低,在外周血细胞计数及原始细胞数,染色体核型、其他基因突变伴发等方面无明显差异。
[Abstract]:[objective] to evaluate the relationship between allelic allele ratio (allelic Ratioar), clinical indexes and efficacy of FLT3-ITD mutation. [methods] from June 2016 to March 2017, bone marrow mononuclear cells were collected from 62 newly diagnosed acute myeloid leukemia patients from Hematological Hospital of Chinese Academy of Medical Sciences. The exons 14 to 15 of FLT3 gene were amplified by PCR technique. The net optical density of each band was collected by agarose gel electrophoresis software. The AR value of ITD was calculated as follows: mutant net optical density value / wild type net optical density value. The clinical data of 42 patients with primary AML were analyzed retrospectively. The AR value and sex, age, white blood cell count, erythrocyte count, hemoglobin, platelet and peripheral blood primordial cell count, bone marrow progenitor cell count were further analyzed in FLT3-ITD patients. The relationship between PML-RAA AML1-ETO fusion gene and chromosome karyotype, gene mutation NPM1, DNMT3A and therapeutic remission was found. [results] the AR range of 62 patients with AML ranged from 0.12-3.55 with a median value of 1.06.For 42 patients with primary AML with clinical data, the complete remission rate of AR1.3in high AR group was 30, which was significantly lower than that in low AR group, and the same results were found in 33 patients with primary AML who were not treated with APL. The remission rate was 25 in high AR group and 68 in low AR group. There were no significant differences between the two groups in sex, age, other blood cell counts, chromosome abnormalities and other gene mutations. [conclusion] the complete remission rate of patients with AR value of FLT3-ITD mutation greater than 1. 3 is low, and there is no significant difference in peripheral blood cell count and primordial cell count, chromosome karyotype and other gene mutation associated.
【学位授予单位】：北京协和医学院
【学位级别】：硕士
【学位授予年份】：2017
【分类号】：R733.71

【相似文献】