儿童急性巨核细胞白血病14例临床特征分析

Clinical features of acute megakaryocytic leukemia in children: analysis of 14 cases

目的:探讨儿童急性巨核细胞白血病(AMKL)的临床特征。方法:回顾性分析2012年1月至2021年7月华中科技大学同济医学院附属同济医院收治的14例儿童AMKL的临床资料,并复习相关文献。结果:14例AMKL患儿中男性5例,女性9例,中位发病年龄19月龄(0.1~109月龄);唐氏综合征相关AMKL 1例,非唐氏综合征相关AMKL 13例。多以发热、贫血或出血症状就诊,少数以关节疼痛为首发表现。部分患儿可伴有肝大、脾大或淋巴结肿大等髓外浸润表现。14例患儿初诊中位白细胞计数10.67×109/L[(6.56~83.62)×109/L],中位血红蛋白浓度84 g/L(55~121 g/L),中位血小板计数37×109/L[(8~1443)×109/L],中位外周血幼稚细胞比例0.09(0.00~0.79)。骨髓涂片观察示原始巨核细胞胞体大小不等,边缘不规则,少数细胞有空泡形成,中位骨髓原始巨核细胞比例0.636(0.332~0.976);胞核类圆形或不规则,可见多个核仁或隐匿的核仁。PAS染色部分阳性,免疫组织化学检测示POX、AS-DNCE及α-NBE均阴性。流式细胞术检测示,巨核细胞相关抗原CD41a、CD61阳性各12例,CD42b阳性10例。3例患儿完成化疗,其中1例唐氏综合征相关和1例非唐氏综合征相关患儿均无事件生存,另1例非唐氏综合征相关患儿骨髓复发后死亡。结论:儿童AMKL临床表现及生物学特征复杂,预后差。部分患儿可通过单纯化疗达到无病生存。

Objective:To investigate the clinical features of acute megakaryocytic leukemia (AMKL) in children.Methods:The clinical data of 14 children with AMKL in Tongji Hospital of Tongji Medical College of Huazhong University of Science and Technology from January 2012 to July 2021 were retrospectively analyzed, and the related literature was reviewed.Results:Among 14 children with AMKL, there were 5 males and 9 females, and the median age of onset was 19 months (0.1-109 months);1 case was Down syndrome-related AMKL, and 13 cases were non-Down syndrome-related AMKL. Most of the children presented with fever, anemia or bleeding symptoms, and a few patients presented with joint pain as the primary symptom. Some children were accompanied by extramedullary infiltration such as hepatomegaly, splenomegaly or lymphadenovarix. Initial investigations of 14 children showed that the median white blood count, hemoglobin concentration and platelet count were 10.67×10^(9)/L [(6.56-83.62)×10^(9)/L], 84 g/L (55-121 g/L), 37×10^( 9)/L [(8-1443) ×10^(9)/L], respectively, and the median proportion of naive cells in peripheral blood was 0.09 (0.00-0.79). Bone marrow smear showed that the primitive megakaryocytes were characterized by various size and irregular form, a few of which had cytoplasmic vacuoles, and the median proportion of bone marrow primitive megakaryocytes was 0.636 (0.332-0.976);the nuclei were round or irregular, with multiple nucleoli or hidden nucleoli. RAS staining was partially positive, and immunohistochemical assay showed that POX, AS-DNCE and α-NBE were negative. Detection of megakaryocyte-associated antigens by flow cytometry showed 12 children expressed CD41a or CD61, and 10 children expressed CD42b. Among 3 children who completed chemotherapy, 1 case of Down syndrome-related AMKL and 1 case of non-Down syndrome-related AMKL were event-free survival, and 1 case of non-Down syndrome-related AMKL died after bone marrow relapse. Conclusions:The clinical manifestations and biological characteristics of children with AMKL are complicated and the prognosis is poor. Some children can achieve disease-free survival through chemotherapy alone.