纯红细胞再生障碍性贫血继发急性粒细胞白血病一例并文献复习  

A Case of Acute Myeloid Leukemia Secondary to Pure Red Cell Aplasia and Literature Review

作　　者：毛静诚 余梦莹 夏园 高广义[1] 吴正东[1] 朱剑锋[1] MAO Jing-cheng;YU Meng-ying;XIA Yuan;GAO Guang-yi;WU Zheng-dong;ZHU Jian-feng(Taizhou People's Hospital,Taizhou Jiangsu 225300;Dalian Medical University,Dalian Liaoning 116000,China)

机构地区：[1]泰州市人民医院,江苏泰州225300 [2]大连医科大学研究生院,辽宁大连116000

出　　处：《泰州职业技术学院学报》2021年第5期69-71,共3页Journal of Taizhou Polytechnic College

基　　金：2021年泰州市人民医院院级课题(ZL202032,课题负责人:朱剑锋).

摘　　要：目的纯红细胞再生障碍性贫血(PRCA)是一种少见的骨髓衰竭综合征,它可向骨髓增生异常综合征(MDS)/急性粒细胞白血病(AML)转化,但很少见,现报道1例继发于PRCA的AML,并进行相关文献复习,探讨其疾病转化的可能机制、特征及治疗。方法1例76岁男性在诊断纯红细胞再生障碍性贫血7年后出现骨髓原始细胞比例增高,完善骨髓细胞形态学、染色体核型分析、融合基因检测等。结果骨髓细胞形态学提示原始细胞占84%,融合基因检测示AML1-MDS1/EVI1,诊断为急性粒细胞白血病部分分化型,予以1疗程地西他滨联合HA方案化疗患者未缓解,后予以1疗程地西他滨联合维奈克拉方案治疗,患者获得完全缓解,但2月后即复发,再予以地西他滨联合维奈克拉方案治疗效果不佳,复发后2月患者死于重症感染。结论PRCA是多种原因引起的骨髓单纯红细胞系列造血衰竭,以正细胞正色素性贫血、网织红细胞减低、骨髓幼红细胞显著减少或缺如为特征,少部分患者可发生MDS/AML转化,携带ASXL1、DNMT3A和BCOR等基因突变的患者更易发生转化,预后差,合并t(3;21)(q26;q22)易位的患者对化疗不敏感,维奈克拉治疗可能有效。Objective To explore the possible mechanism,characteristics and treatment of acute myeloid leukemia(AML)secondary to pure red cell aplasia(PRCA).Methods A patient presented to Taizhou People’s Hospital who suffered from PRCA for 7 years and underwent transformation to AML was included in this study.The pos⁃sible mechanism of disease transformation,characteristics and treatment of the patient were analyzed retrospective⁃ly,and the related literatures were reviewed.Results A 76-year-old man was admitted to hospital for increased fatigue while he has been diagnosed of PRCA for 7 years,the blast cells account for 84%in bone marrow cell morphology,and the fusion gene detection revealed AML1-MDS1/EVI1,he was diagnosed of AML.The pa⁃tients received decitabine combined with HA regimen chemotherapy,its invalid,then he received decitabine combined with venatoclax treatment,he obtained complete remission but relapsed soon 2 months later,then decitabine combined with venatoclax showed no effect.He died of severe infection 2 months after the relapse.Conclusion PRCA is a series of hematopoietic failures.It is characterized by normochromic anemia,reticulocyto⁃penia and absent or infrequent erythroblasts in the bone marrow.A small number of patients may transform to MDS/AML while patients with gene mutations such as ASXL1,DNMT3A and BCOR are more likely to under⁃go the transformation with poor prognosis.Patients with t(3;21)(q26;q22)translocation are not sensitive to che⁃motherapy,but venatoclax may be effective.

关 键 词：纯红细胞再生障碍性贫血 继发急性粒细胞白血病 t(3 21)(q26 q22)易位 

分 类 号：R733.7[医药卫生—肿瘤]