Acute megakaryoblastic leukaemia (AMKL) in children: a comparison of AMKL with and without Down syndrome
Acute megakaryoblastic leukaemia (AMKL) in children: a comparison of AMKL with and without Down syndrome
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DOI：
10.1111/j.1365-2141.2007.06971.x
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发表时间：
2008-03-01
影响因子：
6.5
通讯作者：
Kojima, Seiji
中科院分区：
文献类型：
--
作者：
Hama, Asahito;Yagasaki, Hiroshi;Kojima, Seiji
为了确定儿童急性巨核细胞白血病(AMKL)的特征，我们回顾了1986年至2005年在名古屋大学医院和日本红十字会名古屋第一医院诊断的45名AMKL儿童。24例(53%)AMKL合并唐氏综合征(DS-AMKL)，21例(47%)非DS-AMKL。DS-AMKL患者的平均年龄为21个月(8-38个月)，非DS-AMKL患者的中位年龄为15个月(2-185个月)。根据巨核细胞成熟的不同阶段，将原始细胞的形态分为三组。在形态和免疫表型方面，DS-AMKL组的原始细胞比非DS-AMKL组的原始细胞更不成熟。白血病细胞的细胞遗传学异常分为7类：正常核型，包括DS-AMKL的构成三体21；仅数量异常；t(1；22)(p13；q13)；3q21q26异常；t(16；21)(p11；q22)；-5/del(5q)和/或-7/del(7q)；以及其他结构变化。患有DS-AMKL或非DS-AMKL的儿童预后良好。DS-AMKL组和非DS-AMKL组的10年总生存率分别为79%[95%可信区间：54-90]和76%(95%可信区间：58-91)(P=0.81)，中位随访期78个月(范围20-243个月)。我们的研究表明，儿童AMKL具有多样性，需要根据细胞遗传学和形态学特征进行细分。
To characterize childhood acute megakaryoblastic leukaemia (AMKL), we reviewed 45 children with AMKL diagnosed between 1986 and 2005 at Nagoya University Hospital and Japanese Red Cross Nagoya First Hospital. Twenty-four patients (53%) had AMKL associated with Down syndrome (DS-AMKL) and 21 (47%) had non-DS-AMKL. The median age of the DS-AMKL patients was 21 months (range, 8-38 months) and that of non-DS-AMKL patients was 15 months (range, 2-185 months). The morphology of blast cells was categorized into three groups according to the stage of megakaryocyte maturation. The blast cells were more immature in DS-AMKL than in non-DS-AMKL in terms of morphology and immunophenotyping. Cytogenetic abnormalities of leukaemic cells were classified into seven categories: normal karyotype including constitutional trisomy 21 in DS-AMKL; numerical abnormalities only; t(1;22)(p13;q13); 3q21q26 abnormalities; t(16;21)(p11;q22); -5/del(5q) and/or -7/del(7q); and other structural changes. The outcome of children with either DS-AMKL or non-DS-AMKL is excellent. The 10-year overall survival estimate was 79% [95% confidence interval (CI): 54-90] for DS-AMKL and 76% (95% CI: 58-91) for non-DS-AMKL (P = 0.81) with a median follow-up of 78 months (range, 20-243 months). Our study shows the diverse heterogeneity of childhood AMKL and the need for subclassification according to cytogenetic and morphological features.