Myelodysplastic syndrome in children and adolescents
Myelodysplastic syndrome in children and adolescents
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DOI：
10.1053/j.seminhematol.2007.10.006
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发表时间：
2008-01-01
影响因子：
3.6
通讯作者：
Baumann, Irith
中科院分区：
文献类型：
--
作者：
Niemeyer, Charlotte M.;Baumann, Irith
骨髓增生异常综合征（MDS）是一种克隆性疾病，其特征是无效的造血和随后频繁发展的急性髓细胞白血病（AML）。在儿童和青少年中，MDS是不常见的疾病，占造血系统恶性肿瘤的不到5%，在表现和临床过程中具有很大的异质性。导致儿童患MDS的遗传变化在很大程度上是模糊的。单体7是最常见的染色体异常，通常作为唯一的异常发生。世界卫生组织（WHO）最近对儿科分类的修改极大地促进了诊断过程。难治性血细胞减少症（RC）是儿童中最常见的MDS亚型，约占所有MDS病例的一半。有一个共识，即MDS与原始细胞计数增加和新发AML之间的关系更好地定义了生物学和临床特征，而不是原始细胞计数。由于7号单体性是唯一强烈提示MDS的染色体异常，因此在确定MDS诊断之前，必须密切观察出现低原始细胞计数和其他染色体畸变或正常核型的儿童。随着接受化疗或放疗的原发性癌症儿童存活率的增加，继发性治疗相关MDS的发病率也在上升。遗传性骨髓衰竭疾病患者的MDS风险也增加;这种关系为MDS生物学提供了有价值的见解。来自匹配的相关或合适的非相关供体的异基因造血干细胞移植（HSCT）是大多数MDS儿童的选择，可以挽救大部分患者。
Myelodysplastic syndromes (MDS) are clonal disorders characterized by ineffective hematopoiesis and subsequent frequent development of acute myeloid leukemia (AML). In children and adolescents, MDS are uncommon disorders, accounting for less than 5% of hematopoietic malignancy, with great heterogeneity in presentation and clinical course. The genetic changes predisposing children to MDS are largely obscure. Monosomy 7 is the most common chromosomal abnormality, often occurring as a sole abnormality. The recent pediatric modification of the World Health Organization (WHO) classification has greatly facilitated the diagnostic process. Refractory cytopenia (RC) is the most common MDS subtype in children, occurring in about half of all MDS cases. There is consensus that the relationship between MDS with increased blast count and de novo AML is better defined by biological and clinical features than by blast count. Because monosomy 7 is the only chromosomal abnormality strongly suggestive of MDS, children presenting with a low blast count and other chromosomal aberrations or normal karyotype must be closely observed before a diagnosis of MDS can be established. With an increasing number of children surviving primary cancer with chemotherapy or radiation therapy, the incidence of secondary therapy-related MDS is rising. The MDS risk is also increased in patients with inherited bone marrow failure disorders; this relationship provides valuable insights into MDS biology. Allogeneic hematopoietic stem cell transplantation (HSCT) from a matched related or suitable unrelated donor is the choice for most children with MDS and can rescue a large proportion of patients.