儿童骨髓增生异常综合征28例临床分析

Clinical analysis of 28 cases of pediatric myelodysplastic syndrome

目的探讨儿童骨髓增生异常综合征(MDS)的临床特点、诊断及治疗。方法回顾性分析2006年1月至2012年3月确诊的28例MDS患儿的临床症状、体征、实验室检查、治疗及疾病转归。结果患儿临床表现主要为贫血(96%)、出血(68%)、发热(68%)或肝脾肿大(61%)。3例(11%)患儿分别转变为急性单核细胞白血病(M5)、红白血病(M6)、急性巨核细胞白血病(M7),转为白血病的时间为1～2个月。患儿骨髓增生程度以活跃和明显活跃为主,病态造血以一系和二系病态为主;铁代谢存在明显紊乱;染色体异常核型检出率为45%,以数量异常为主;T细胞、B细胞、NK细胞总数减低,Th细胞表达减低,Ts细胞表达增高,Th/Ts比值倒置。8例患儿确诊后即放弃治疗;8例仅予对症支持治疗,其中1例失访,1例疾病稳定,6例疾病进展;诱导分化和刺激骨髓造血各1例,均发生疾病进展;10例行化疗,其中2例单药化疗,骨髓均无缓解,另8例联合化疗,其中4例骨髓部分缓解或完全缓解。结论儿童MDS具有临床表现不典型、转为白血病风险高的特点;骨髓增生程度以活跃为主;病态造血以一系和二系病态为主;染色体畸变以数量异常为主;铁代谢明显紊乱,细胞免疫异常。多药联合化疗可延缓病程。

Objective To explore the clinical features, diagnosis and treatment of pediatric myelodysplastic syndrome （MDS）. Methods Twenty-eight children with MDS between January 2006 and March 2012 were enrolled in the study. Clinical symptoms, signs, laboratory examinations, treatment and outcomes were retrospectively studied. Results Anemia （96%）, bleeding （68%）, fever （68%） and hepatosplenomegaly （61%） were main clinical manifestaions in the 28 patients. Three cases （11%） converted into acute monocytic leukemia （M5）, erythroleukemia （M6） or acute megakaryocytic leukemia （M7） one to two months later. Bone marrow proliferation mainly demonstrated as active or obviously active. One or two lineages of hematopoietic dysplasia were mostly observed in all 28 cases and obvious iron metabolism disorders were found in these patients. Cytogenetic abnormalities were detected in 45% of the 28 cases, most of which were numeral chromosome abnormalities. T cell, B cell and NK cell numbers decreased, Th cell numbers decreased, Ts cell numbers increased and Th/Ts inversed. Eight cases gave up treatment when confirmed. Of the 8 cases receiving symptomatic and supportive treatment alone, one was lost, one showed disease stability, and the remaining 6 cases showed disease progression. One patient who underwent induced differentiation and one who received hematopoietic therapy showed disease progression. Ten patients underwent chemotherapy. Two cases had no bone marrow remission after single agent chemotherapy. Of the 8 cases who underwent muhi-drug combination chemotherapy, 4 cases achieved partial or complete ,＇emission of bone marrow. Conclusions Pediatric MDS is characterized by a lack of typical clinical manifestations, and a high rate of conversion to leukemia. Bone marrow proliferation is mainly active in children with MDS. One or two lineages of hematopoietic dysplasia is common. Among the cytogenetic abnormalities, numeral chromosome abnormalities are common. Obvious iron metabolism disorders and abnormal cellular immunity are found in children with MDS. Multi-drug combination chemotherapy appears to slow the course of the disease.