Hasegawa Daisuke
Department of Pediatrics, St. Luke's International Hospital.
Rinsho Ketsueki. 2021;62(4):229-238. doi: 10.11406/rinketsu.62.229.
Myelodysplastic syndrome (MDS) is a group of clonal hematopoietic disorders characterized by peripheral cytopenia and morphological abnormalities in hematopoietic cells, i.e., myelodysplasia. Aging-related somatic variants acquired in the hematopoietic cells are associated with MDS pathogenesis in adults. However, pediatric MDS often occurs because of germline predispositions. Myelodysplasia can be observed in not only MDS but also other hematopoietic and non-hematopoietic disorders, such as infections and primary immunodeficiencies. Therefore, careful differential diagnosis between MDS and other diseases is necessary. The bone marrow histopathology should be evaluated for accurate differentiation of MDS without excess blasts from aplastic anemia and MDS with excess blasts from acute myeloid leukemia. The treatment strategy for childhood MDS differs based on disease subtypes. The clinical courses of pediatric MDS without excess blasts are heterogeneous; therefore, it is crucial to assess the prognostic values of clinical and cytogenetic findings. In contrast, allogeneic hematopoietic cell transplantation should be considered as the only curative option for pediatric MDS with excess blasts.
骨髓增生异常综合征（MDS）是一组克隆性造血疾病，其特征为外周血细胞减少以及造血细胞的形态学异常，即骨髓发育异常。造血细胞中获得的与衰老相关的体细胞变异与成人MDS的发病机制有关。然而，儿童MDS常因种系易感性而发生。骨髓发育异常不仅可见于MDS，也可见于其他造血和非造血疾病，如感染和原发性免疫缺陷。因此，有必要仔细鉴别MDS与其他疾病。应评估骨髓组织病理学，以便准确区分无过多原始细胞的MDS与再生障碍性贫血，以及有过多原始细胞的MDS与急性髓系白血病。儿童MDS的治疗策略因疾病亚型而异。无过多原始细胞的儿童MDS临床病程具有异质性；因此，评估临床和细胞遗传学检查结果的预后价值至关重要。相比之下，异基因造血细胞移植应被视为有过多原始细胞的儿童MDS的唯一治愈选择。
