儿童急性红白血病临床特点及预后分析

Clinical characteristics and prognosis of acute erythroleukemia in children

摘要:

目的 探讨儿童急性红白血病（acute erythroleukemia, AEL）的临床特征和预后。方法 回顾性分析2013年1月—2023年12月郑州大学第一附属医院收治的8例AEL患儿的临床资料、治疗和预后。结果 可获得完整骨髓细胞形态学分析的7例患儿中，4例病态造血累及三系，其中红系病态造血发生率为100%（7/7），粒系病态造血发生率为71%（5/7），巨核系病态造血发生率为57%（4/7）。免疫分型中髓系抗原主要表达CD13、CD33、CD117、CD38、CD123，分别有4例和2例表达红系抗原CD71和CD235a。染色体核型分析示2例为异常染色体核型，核型异常涉及+8 1例，+4伴+6 1例，未见复杂染色体核型。4例检测出基因异常，融合基因涉及dup MLL阳性、EVI1阳性各1例，突变基因涉及KRAS、NRAS、WT1及UBTF突变。7例进行化疗，1个疗程化疗后6例达到缓解，其中2例行造血干细胞移植，目前均无病存活中。随访（中位随访时间6个月）显示，仅有3例存活（2例为造血干细胞移植后，1例治疗中）。结论 儿童AEL具有独特的临床及生物学特征，对治疗反应不佳，预后差，造血干细胞移植或可提高其整体生存率。

Abstract:

Objective To investigate the clinical characteristics and prognosis of acute erythroleukemia (AEL) in children.Methods A retrospective analysis was conducted on the clinical data, treatment, and prognosis of 8 children with AEL treated at the First Affiliated Hospital of Zhengzhou University from January 2013 to December 2023.Results Among the 7 patients with complete bone marrow morphological analysis, 4 exhibited trilineage dysplasia, with a 100% incidence of erythroid dysplasia (7/7), a 71% incidence of myeloid dysplasia (5/7), and a 57% incidence of megakaryocytic dysplasia (4/7). Immunophenotyping revealed that myeloid antigens were primarily expressed as CD13, CD33, CD117, CD38, and CD123, with 4 cases expressing erythroid antigens CD71 and 2 cases expressing CD235a. Chromosomal analysis indicated that 2 cases presented with abnormal karyotypes, including +8 in one case and +4 accompanied by +6 in another; no complex karyotypes were observed. Genetic abnormalities were detected in 4 cases, with fusion genes including one case each of dup MLL positive and EVI1 positive, as well as mutations involving KRAS, NRAS, WT1, and UBTF. Seven patients received chemotherapy, with 6 achieving remission after one course of treatment; 2 underwent hematopoietic stem cell transplantation, and all had disease-free survival. Follow-up (median follow-up time of 6 months) showed that only 3 patients survived (2 cases after hematopoietic stem cell transplantation and 1 case during treatment).Conclusions Children with AEL have unique clinical and biological characteristics, exhibit poor treatment response, and have a poor prognosis; however, hematopoietic stem cell transplantation may improve overall survival rates.