骨髓增生异常综合征转化为急性髓系白血病患者的临床特征及预后分析

发布时间：2018-03-24 11:14

本文选题：骨髓增生异常综合征　切入点：急性髓系白血病　出处：《山西医科大学》2017年硕士论文

【摘要】：目的:回顾性收集和分析骨髓增生异常综合征(myelodysplastic syndrome,MDS)转化为AML(acute myeloid leukemia,AML)患者的临床特征,评价高危分子或细胞遗传学特征、地西他滨治疗与MDS转AML之间的关系方法:1.收集2011年1月至2016年12月山西医科大学第二医院收治的MDS转AML的病例,统计其年龄、性别、临床表现、血象、骨髓象、染色体核型、FISH、基因突变、IPSS评分等资料;分析其临床特征及实验室资料包括血象、骨髓象、基因突变、染色体、FISH、治疗方案等与MDS转化为AML之间的关系。2.将患者按照治疗方案分组,即含地西他滨组和传统治疗组,比较两组的转白血病时间有无统计学差异;(转白血病时间:按照从确诊MDS到转化为AML的时间)结果:1.MDS转AML患者总数51例,其中男性31例(60.78%),女性20例(39.22%),男女比例为3:2,总体年龄分布区间[14-82]岁,中位年龄为59岁。51例患者中最常见的MDS类型为MDS-EB-2,转白血病的中位时间为6[0.5-36]个月,白血病类型包括:AML-M4、AML-M5、AML-M6、未分型AML。2.临床表现:贫血(50例),发热(12例),出血表现(6例),3例出现髓外浸润,包括中枢神经系统白血病(Central nervous system leukemia,CNSL)2例和皮肤浸润1例。3.51例患者中共检测到21例伴有染色体核型异常,7例伴有基因突变(TET2、DNMT3A、ASXL1、ASXL2、RUNX1、P53、NPM1突变);其中6例转AML后出现新的染色体核型,5例出现新的基因突变。4.经统计学分析,性别和年龄与MDS向AML转化无显著性统计学差异(P0.05);而血细胞减少系列数、MDS分型、染色体核型异常的类型和数量与MDS向AML转化密切相关,且差异均具有统计学意义。5.预后及转归:51例患者在MDS阶段的治疗方案,分为:含地西他滨组和传统治疗组;经统计学分析,含地西他滨组的平均转白血病时间为10.7个月,传统治疗组为6.6个月,但t检验分析,两组转白血病时间的差异并无统计学差异(P0.05),这与文献报道并不一致。结论:1.MDS患者极易向AML转化,且预后极差,病死率高;2.MDS转AML患者中,白血病类型多为AML-M4,多以血细胞减少所致的症状为主要临床表现,可伴有髓外浸润;3.血细胞减少的系列数、MDS分型、染色体核型异常的类型和数量,可能是影响MDS向AML转化的重要因素;4.去甲基化治疗,或可延长MDS患者向AML转化的时间。
[Abstract]:Objective: to retrospectively collect and analyze the clinical characteristics of patients with myelodysplastic syndrome (MDS) transformed into AML(acute myeloid leukemia (AML(acute), and to evaluate the characteristics of high risk molecules or cytogenetics. Methods: 1. To collect the cases of MDS to AML treated in the second Hospital of Shanxi Medical University from January 2011 to December 2016, and to calculate their age, sex, clinical manifestations, blood and bone marrow images. The clinical features and laboratory data, including hematology, bone marrow, gene mutation, chromosome FISH, treatment regimen, and the conversion of MDS to AML, were analyzed. 2. The patients were divided into two groups according to the treatment plan. There was no statistical difference in the time of leukemia conversion between the two groups (the time of leukemia conversion: according to the time from confirmed MDS to transforming to AML). 1. The total number of patients with MDS to AML was 51. Among them, 31 cases were male and 20 cases were female. The ratio of male to female was 3: 2. The overall age distribution was [14-82] years. The median age was 59 years. The most common type of MDS was MDS-EB-2. The median time to leukemia was 6 [0.5-36] months. The types of leukemia include: AML-M4, AML-M5, AML-M6, unclassified AML-M6.Clinical manifestations: anemia in 50 cases, fever in 12 cases, hemorrhage in 6 cases and extramedullary infiltration in 3 cases. A total of 21 cases with chromosomal karyotype abnormalities were detected in 2 cases of Central nervous system leukemiaSl and 1 case of skin infiltration. 7 cases were found to be accompanied with gene mutation Tet 2T 3A, ASXL1, RUNX1, RUNX1, RUNX1, P53NPM1, and 6 of them had new chromosomal nuclear mutations after AML transformation, and 7 patients with DNMT3An ASXL1 / ASXL1 / RUNX1 / RUNX1 / P53NPM1 / P53NPM1 mutation were found in 7 patients with abnormal chromosomal karyotype. New gene mutation. 4. by statistical analysis, There was no significant statistical difference between sex and age in the transformation of MDS to AML, but there was a close relationship between the type and number of abnormal karyotype of MDS and the transformation of MDS to AML. The prognosis and outcome of 51 patients with MDS were divided into two groups: the dietabine group and the traditional treatment group, and the mean time of leukemia was 10.7 months in the dietabine group. It was 6.6 months in the traditional treatment group, but there was no significant difference between the two groups in the time of transition to leukemia (P 0.05), which was not consistent with the literature reports. Conclusion: 1. MDS patients are easy to transform to AML, and the prognosis is very poor. 2. In the patients with high mortality of MDS to AML, there is no significant difference between the two groups. Most of the leukemia types are AML-M4, the main clinical manifestations are the symptoms caused by hematopenia, which may be accompanied by extramedullary infiltration. Demethylation therapy may be an important factor affecting the transformation of MDS to AML, or it may prolong the time of AML transformation in MDS patients.
【学位授予单位】：山西医科大学
【学位级别】：硕士
【学位授予年份】：2017
【分类号】：R551.3;R733.71

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