儿童难治性血细胞减少症的研究进展

Current opinions on refractory cytopenia of childhood

骨髓增生异常综合征(myelodysplastic syndromes,MDS)是起源于造血干/祖细胞的一组恶性髓系克隆性疾病,其特征为外周血细胞减少,髓系造血细胞一系或多系发育异常,和易演变成急性髓系白血病(acute myeloid leukemia,AML).儿童难治性血细胞减少症(refractory cytopenia of childhood,RCC)是儿童MDS最常见的临床类型,表现为外周血一系或多系血细胞减少,骨髓髓系发育异常改变,且不伴原始细胞增多.该类型于2008年纳入WHO儿童MDS中,由于RCC发病率很低,缺乏特异性的诊断方法,早期诊断困难且预后不良,该文对RCC的定义、临床表现、实验室检查、诊断与鉴别诊断、治疗策略等进行综述.

Myelodysplastic syndromes are a group of malignant myeloid clonal diseases that originate from hematopoietic stem/progenitor cells.They are characterized by decreased peripheral blood cells,dysplasia of one or multiple lineages of myeloid hematopoietic cells,and prone to transform into acute myeloid leukemia.Refractory cytopenia of childhood is the most common clinical type of MDS in children.Its clinical manifestations include the decrease in one or multiple lineages of peripheral blood cells,abnormal development of the myeloid lineage,and the absence of excess blasts.This type was first introduced in WHO children's MDS in 2008.Considering the low incidence and lack of specific diagnostic methods,difficulty in early diagnosis and poor prognosis of RCC,we summarize the definition,clinical manifestations,laboratory tests,diagnosis and differential diagnosis,and treatment strategies of RCC in this review.