急性巨核细胞白血病14例临床分析并文献复习  

Clinical analysis and literature review of 14 patients with acute megakaryocytic leukemia

作　　者：刘彦权 殷悦[2] 陈玉婷 杨慧 唐焕文 Liu Yan-Quan;Yin Yue;Chen Yu-Ting;Yang Hui;Tang Huan-Wen(Department of Hematology,First Clinical Medical College,Graduate School of Guangdong Medical University/Guangdong Institute of Environmental and Occupational Medicine/Dongguan Key Laboratory of Environmental Medicine,Dongguan,Guangdong 523808,China;Institute of Hematology,Fujian Medical University Union Hospital,Fuzhou,Fujian 350001,China)

机构地区：[1]广东医科大学研究生院第一临床医学院血液内科/广东省环境与职业医学研究所/东莞市环境医学重点实验室,广东东莞523808 [2]福建医科大学附属协和医院血液病研究所,福建福州350001

出　　处：《解放军医学杂志》2022年第10期1006-1012,共7页Medical Journal of Chinese People's Liberation Army

基　　金：国家自然科学基金面上项目(82073582);广东省教育厅高校特色创新项目(2020KTSCX048);广东医科大学学科建设项目(4SG22003G,4SG21209G);广东医科大学科技创新专项计划项目(4SG22046G)。

摘　　要：目的 分析急性巨核细胞白血病(AMKL)的临床特征、诊治及预后情况,并进行文献复习。方法 回顾性分析2016年1月-2021年5月福建医科大学附属协和医院、赣南医学院第一附属医院收治的共14例AMKL患者的临床资料,总结AMKL患者的临床特征、诊断及鉴别诊断、治疗及预后等,并检索国内外文献资料进行文献复习。结果 共纳入14例AMKL患者,其中儿童6例,男4例,女2例,中位年龄2岁(13个月至6岁);成人8例,男5例,女3例,中位年龄57(19~78)岁。患者临床表现主要以血液病非特异性症状为主,所有患者均完善骨髓穿刺活检术,镜下可见大量原始巨核细胞,除2例未完善流式细胞术免疫分型、细胞遗传学及分子生物学检测外,余12例均有巨核系抗原(CD41、CD61、CD42b)表达,且伴随遗传学或分子生物学异常。除1例骨髓移植后尚存活、1例失访外,余12例死亡,中位生存期5.5(0~21)个月。2002-2022年中国(不包括港澳台地区)共报道AMKL患者249例,其中由其他血液病转化16例:6例由慢性粒细胞白血病(CML)转化,4例由骨髓增生异常综合征(MDS)转化,3例由骨髓纤维化(MF)转化,2例由原发免疫性血小板减少症(ITP)转化,1例由急性淋巴细胞白血病(ALL)转化。249例AMKL患者中,尚存活24例,死亡225例,死因多为化疗后病情进展或复发、移植后复发、重症感染及致命性出血等。结论 AMKL罕见且预后极差,临床表现缺乏特异性,通过骨髓常规和病理、流式细胞术免疫分型、细胞遗传学、分子生物学检查以及电镜技术等综合判断有助于其诊断及鉴别。治疗上应首选参加临床研究,同时密切监测可检测残留病(MRD),诱导缓解化疗联合表观遗传学药物及靶向治疗可能使AMKL患者受益,在标准化疗诱导缓解第1次完全缓解后应尽早行造血干细胞移植,以最大程度改善预后。Objective To analyze the clinical features,diagnosis and treatment and prognosis of acute megakaryocytic leukemia(AMKL),and then review the relative of AMKL.Methods Retrospectively study the clinical data of 14 AMKL patients admitted to Fujian Medical University Union Hospital and the First Affiliated Hospital of Gannan Medical University from January 2016 to May 2021,analyze and discuss the clinical features,diagnosis and differential diagnosis,treatment and prognosis of AMKL patients,and search domestic or foreign literature for the literature review at the same time.Results A total of 14 AMKL patients were included in present study,including 6 children[4 males and 2 females,with a median age of 2 years(13 months to 6 years)];8 adult patients[5 males and 3 females,with a median age of 57(19-78)years].The clinical manifestations of the patients were mainly non-specific symptoms of blood diseases.All patients underwent bone marrow biopsy,and a large number of primitive megakaryocytes were seen under the microscope.Except for 2 patients with incomplete flow immunophenotyping,cytogenetics and molecular biology tests,all the remaining 12 patients had megakaryocyte antigens(CD41,CD61,CD42b)expression,accompanied by genetic or molecular biology abnormalities.Except for 1 patient who survived after bone marrow transplantation and 1 patient who was lost to follow-up,the remaining 12 patients died,the median survival time was 5.5(0–21)months.A total of 249 cases of AMKL patients in mainland of China(excluding Hong Kong,Macao and Taiwan)were reported from 2002 to 2022,of which 16 cases were transformed by other hematological tumor diseases:6 cases were transformed by chronic myeloid leukemia(CML),4 cases were transformed by myelodysplastic syndrome(MDS),3 cases were transformed by myelofibrosis(MF),2 cases were transformed by primary immune thrombocytopenia(ITP),and 1 was transformed by acute lymphoblastic leukemia(ALL).Among the 249 AMKL patients,24 survived and 225 died.Most of the causes of death were disease progres

关 键 词：急性巨核细胞白血病 原始巨核细胞 鉴别诊断 临床特征 预后 

分 类 号：R733.71[医药卫生—肿瘤]