Nunes Amanda de Lourdes, Paes Cybele de Andrade, Murao Mitiko, Viana Marcos Borato, De Oliveira Benigna Maria
Universidade Federal de Minas Gerais (UFMG), Belo Horizonte, MG, Brazil.
Universidade Federal de Minas Gerais (UFMG), Belo Horizonte, MG, Brazil.
Hematol Transfus Cell Ther. 2019 Jul-Sep;41(3):236-243. doi: 10.1016/j.htct.2018.09.007. Epub 2019 Feb 16.
To describe cytogenetic and molecular abnormalities observed in children and adolescents with acute myeloid leukemia (AML), classify AML according to the World Health Organization (WHO) classifications from 2008 and 2016, and evaluate the prognosis according to clinical characteristics and cytogenetic abnormalities.
A retrospective longitudinal study was performed on a population of 98 patients with AML, aged up to 16 years, seen in a single hospital from 2004 to 2015.
Among the 80 patients for whom it was possible to analyze the karyotype, 78.7% had chromosomal changes, the most frequent being t(15;17)(q22;q21). Of the 86 patients for whom we had cytogenetic or molecular data, making it possible to classify their AML according to the WHO classification, 52.3% belonged to the group with recurrent genetic abnormalities, 22% to the "AML not otherwise specified" group, 18.6% to the group with myelodysplasia-related cytogenetic changes, and 7% to the group with Down syndrome-related leukemia. Five-year overall survival (OS) for the whole group was 49.7%±5.2%. In the univariate and multivariate analyses, patients with myelodysplasia-related cytogenetic changes (OS 28.1%±12.2%) and those with "AML not otherwise specified" (OS 36.1%±11.2%) had an unfavorable prognosis when compared to patients with AML with recurrent genetic abnormalities (OS 71%±5.8%) and patients with Down syndrome-related AML (OS 83%±15.2%, p=0.011).
The results corroborate the importance of cytogenetic abnormalities as a prognostic factor and indicate the need for cooperative and prospective studies to evaluate the applicability of the WHO classification in the pediatric population.
描述急性髓系白血病（AML）儿童和青少年患者中观察到的细胞遗传学和分子异常，根据2008年和2016年世界卫生组织（WHO）分类对AML进行分类，并根据临床特征和细胞遗传学异常评估预后。
对1994年至2015年在一家医院就诊的98例16岁及以下AML患者进行回顾性纵向研究。
在80例可分析核型的患者中，78.7%有染色体改变，最常见的是t(15;17)(q22;q21)。在86例有细胞遗传学或分子数据从而可根据WHO分类对其AML进行分类的患者中，52.3%属于有复发性基因异常的组，22%属于“未另行规定的AML”组，18.6%属于有骨髓增生异常相关细胞遗传学改变的组，7%属于唐氏综合征相关白血病组。全组5年总生存率（OS）为49.7%±5.2%。在单因素和多因素分析中，与有复发性基因异常的AML患者（OS 71%±5.8%）和唐氏综合征相关AML患者（OS 83%±15.2%，p = 0.011）相比，有骨髓增生异常相关细胞遗传学改变的患者（OS 28.1%±12.2%）和“未另行规定的AML”患者（OS 36.1%±11.2%）预后不良。
结果证实了细胞遗传学异常作为预后因素的重要性，并表明需要进行合作性前瞻性研究以评估WHO分类在儿科人群中的适用性。
