Objective: To study the clinical features and prognosis of childhood acute myeloid leukemia with myelodysplasia-related changes (AML-MRC).
Methods: A retrospective analysis was performed on the medical data of 14 children who were diagnosed with AML-MRC from June 2014 to March 2020, including clinical features, laboratory examination results, and prognosis.
Results: Among the 14 children with AML-MRC, there were 9 boys and 5 girls, with a median age of 11 years (range: 1-17 years), a median leukocyte count of 8.3×109/L [range: (2.0-191.0)×109/L], a median hemoglobin level of 73 g/L (range: 44-86 g/L), and a median platelet count of 75×109/L [range: (4-213)×109/L] at diagnosis. According to the FAB classification, the children with AML-M5 accounted for 71% (10/14). Among the 14 children, 4 had multi-lineage dysplasia (MLD), 2 had a history of myelodysplastic syndrome (MDS), 5 had MDS-related cytogenetic changes, 2 had MLD with MDS-related cytogenetic changes, and 1 had a history of MDS with MLD. The median follow-up time was 10.6 months (range: 0.4-54.4 months) for 14 children, among whom 2 gave up treatment immediately after diagnosis and 12 had an evaluable treatment outcome. The 2-year overall survival (OS) rate was 50%±15%, and the 2-year disease-free survival (DFS) rate was 33%±13%. Of the 12 children, 7 underwent haploidentical hematopoietic stem cell transplantation (HSCT), among whom 5 achieved DFS and 2 died, with a 2-year OS rate of 71%±17% and a 2-year DFS rate of 43%±19%; 5 children underwent chemotherapy alone, among whom 1 achieved DFS, 3 died, and 1 was lost to follow-up, with a 2-year OS rate of 40%±30% and a 2-year DFS rate of 30%±24%. There was no significant difference in the survival condition between the transplantation and chemotherapy groups (P > 0.05).
Conclusions: Childhood AML-MRC is often observed in boys, and AML-M5 is the most common type based on FAB classification. Such children tend to have a poor prognosis. HSCT is expected to improve the poor prognosis of children with AML-MRC. However due to the small number of cases, it is necessary to increase the number of cases for further observation.
目的: 探讨儿童急性髓系白血病伴骨髓增生异常相关改变（AML-MRC）的临床特征及其预后。
方法: 收集2014年6月至2020年3月确诊14例儿童AML-MRC的临床资料，对其临床特征、实验室检查、预后结果进行回顾性分析。
结果: 14例AML-MRC患儿中位发病年龄11岁（范围1~17岁），男9例，女5例，初诊中位白细胞计数8.3×109/L（范围2.0×109/L~191.0×109/L），中位血红蛋白73 g/L（范围44~86 g/L），中位血小板计数75×109/L（4×109/L~231×109/L）。按照FAB分型，AML-M5占71%（10/14）。14例患儿中，多系发育异常4例，具有骨髓增生异常综合征（MDS）病史2例，携带MDS细胞遗传学改变5例，多系发育异常伴MDS细胞遗传学改变2例，MDS病史伴多系发育异常1例。14例患儿中位随访期10.6个月（范围0.4~54.4个月），2例患儿诊断后即放弃治疗，12例患儿可评估疗效。2年总体生存（OS）率为50%±15%；2年无病生存（DFS）率为33%±13%。7例患儿接受造血干细胞移植（HSCT），且均为单倍体造血干细胞移植，5例无病存活，2例死亡，2年OS率为71%±17%，2年DFS率为43%±19%；5例单纯化疗患儿，1例无病存活，3例死亡，1例失访，2年OS率为40%±30%，2年DFS率为30%±24%。移植组及化疗组生存分析结果差异无统计学意义（P > 0.05）。
结论: 儿童AML-MRC男性患儿多发，FAB分型以AML-M5多见，预后不良。HSCT可有望改善儿童AML-MRC不良预后，但是由于病例数较少，还需增加病例数进一步观察。