Myelodysplastic and myeloproliferative disorders of childhood: A study of 167 patients
Myelodysplastic and myeloproliferative disorders of childhood: A study of 167 patients
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DOI：
10.1182/blood.v93.2.459.402k19_459_466
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发表时间：
1999-01-15
期刊：
影响因子：
20.3
通讯作者：
Lange, BJ
中科院分区：
文献类型：
--
作者：
Luna-Fineman, S;Shannon, KM;Lange, BJ
儿童期骨髓增生异常综合征 (MDS) 和骨髓增生综合征 (MPS) 是一组异质性克隆性造血疾病，具有重叠的临床特征和不一致的命名。尽管许多遗传状况与 MDS 和 MPS 相关，但遗传倾向的总体贡献尚不确定。我们报告了一项回顾性研究，该研究检查了 167 名患有 MDS 和 MPS 的儿童的临床特征、遗传关联和结果。在这些患者中，48 人患有相关的体质障碍。 101 名患者患有成人型骨髓增生异常综合征 (A-MDS)，60 名患者患有幼年型粒单核细胞白血病 (JMML)，6 名患有唐氏综合症的婴儿患有短暂性骨髓增殖综合征 (TMS)。 JMML 的特点是发病年龄小，肝脾肿大明显，而 AMDS 患者年龄较大，很少或没有器官肿大。最常见的细胞遗传学异常是7号单体或del(7q)（53例）；这在 JMML 患者和 A-MDS 患者中都很常见。 32% 的患者观察到白血病转化，通常在诊断后 2 年内发生。 16岁时存活率为25%。诊断时有利的预后特征包括年龄小于 2 岁和血红蛋白 F 水平低于 10%。老年患者往往表现为成人型 MDS，属于法国-美国-英国系统。相比之下，婴儿和幼儿通常会出现具有 MDS 和 MPS 重叠特征的独特疾病。尽管本研究中治疗的类型和强度存在显着差异，但除 TMS 患者外，总体结果较差。 (C) 1999 年，美国血液学会。
Myelodysplastic syndromes (MDS) and myeloproliferative syndromes (MPS) of childhood are a heterogeneous group of clonal disorders of hematopoiesis with overlapping clinical features and inconsistent nomenclature. Although a number of genetic conditions have been associated with MDS and MPS, the overall contribution of inherited predispositions is uncertain. We report a retrospective study examining clinical features, genetic associations, and outcomes in 167 children with MDS and MPS. Of these patients, 48 had an associated constitutional disorder. One hundred one patients had adult-type myelodysplastic syndrome (A-MDS), 60 had juvenile myelomonocytic leukemia (JMML), and 6 infants with Down syndrome had a transient myeloproliferative syndrome (TMS). JMML was characterized by young age at onset and prominent hepatosplenomegaly, whereas patients with AMDS were older and had little or no organomegaly. The most common cytogenetic abnormalities were monosomy 7 or del(7q) (53 cases); this was common both in patients with JMML and those with A-MDS. Leukemic transformation was observed in 32% of patients, usually within 2 years of diagnosis. Survival was 25% at 16 years. Favorable prognostic features at diagnosis included age less than 2 years and a hemoglobin F level of less than 10%. Older patients tended to present with an adult-type MDS that is accommodated within the French-American-British system. In contrast, infants and young children typically developed unique disorders with overlapping features of MDS and MPS. Although the type and intensity of therapy varied markedly in this study the overall outcome was poor except in patients with TMS. (C) 1999 by The American Society of Hematology.