小儿骨髓增生异常综合征94例临床分析

Clinical study of 94 children with myelodysplastic syndrome

目的探讨小儿骨髓增生异常综合征(MDS)的临床特点。方法回顾性分析同济医学院附属同济医院1991～2005年间收治的94例小儿MDS的幼稚前体细胞异常定位(ALIP)、血清乳酸脱氢酶(LDH)、血红蛋白F(HbF)、血清铁蛋白(SF)以及细胞遗传学与预后的关系。结果94例中难治性贫血(RA)48例(51.1%),难治性贫血伴原始细胞增多(RAEB)26例(27.7%),转化中的难治性贫血伴原始细胞转化增多(RAEBt)20例(21.3%)。44.0%的病例(11/25)检出ALIP,随访中5例转为白血病。9.6%病例(9/94)伴有嗜酸性粒细胞增多,随访中的7例全部死亡,平均存活时间10.5个月。高危组的SF和LDH明显高于低危组,LDH<300U/L组平均存活时间明显长于LDH≥300U/L组。42.9%(9/21)病例伴有细胞遗传学改变,55.6%(5/9)转为白血病。结论小儿MDS伴有SF和LDH的明显升高以及伴有嗜酸性粒细胞增多者预后不良,染色体核型分析对小儿MDS的诊断、预后评估有重要价值。

Objective To study the clinical characteristics and prognosis factors of myelodysplastic syndrome （MDS） in children. Methods Ninety-four children with MDS from 1991 to 2005 were retrospectively analyzed. Bone marrow biopsy and chromosome analysis was performed in some of the patients, as well as hemoglobin F （ HbF）, serum ferritin （SF） and serum lactate dehydrogenase （ LDH ）. The correlations between these factors and prognosis were analyzed. Results Among all cases,RA,RAEB and RAEB-T were 48 （51%） ,26（28% ） and 20（21% ） ,respectively, Bone marrow biopsy showed abnormal localization of immature precursors （ ALIP） in 44% [11/25） of the patients,4 of whom transformed to leukemia in follow-up. Eosinophilia was found in 10% （9/94） of the children, all of whom died after a median survival time of 10. 5 months. The mean levels of SF and LDH of the high risk group （ RAEB group and RAEB-T group） were much higher than those of the low risk group （ RA group） （ P 〈 0. 05 ）. The median survival time of the patients with LDH 〈 300 U/L was longer than that with LDH ≥30OU/L （ P 〈0. 05）. 43% of the cases （9/21） had clonal chromosome aberrations and 56% （5/9） of them transformed to leukemia. Conclusion The poor prognostic factors of pediatric MDS include eosinophilia and obviously increased level of SF and LDH. Karyotype analysis is helpful for its diagnosis and prognosis estimation.