Leukaemia Research Cytogenetics Group, Northern Institute for Cancer Research, Newcastle University, Queen Victoria Road, Newcastle-upon-Tyne, UK.
J Clin Oncol. 2010 Jun 1;28(16):2674-81. doi: 10.1200/JCO.2009.24.8997. Epub 2010 May 3.
Karyotype is an independent indicator of prognosis in acute myeloid leukemia (AML) that is widely applied to risk-adapted therapy. Because AML is rare in children, the true prognostic significance of individual chromosomal abnormalities in this age group remains unclear.
This cytogenetic study of 729 childhood patients classified them into 22 subgroups and evaluated their incidence and risk.
Rearrangements of 11q23 were the most frequent abnormality found in approximately 16% of patients, with 50% of these in infants. The outcome for all patients with 11q23 abnormalities was intermediate; no difference was observed for those with t(9;11)(p21-22;q23). The core binding factor leukemias with the translocations t(8;21)(q22;q22) and inv(16)(p13q22) occurred at incidences of 14% and 7%, respectively, predominantly in older children, and their prognosis was favorable. An adverse outcome was observed in patients with monosomy 7, abnormalities of 5q, and t(6;9)(p23;q34). Abnormalities of 3q and complex karyotypes, in the absence of favorable-risk features, have been associated with an adverse outcome in adults, but the results were not significant in this childhood series. However, the presence of 12p abnormalities predicted a poor outcome.
Because the spectrum of chromosomal changes and their risk association seem to differ between children and adults with AML, biologic differences are emerging, which will contribute to the redefinition of risk stratification for different age groups in the future.
核型是急性髓细胞白血病（AML）的独立预后指标，广泛应用于风险适应性治疗。由于儿童 AML 较为罕见，因此个体染色体异常在该年龄组中的真正预后意义尚不清楚。
本研究对 729 例儿童患者进行了细胞遗传学研究，将他们分为 22 个亚组，并评估了其发生率和风险。
11q23 重排是最常见的异常，约占患者的 16%，其中 50%发生在婴儿中。所有 11q23 异常患者的结局均为中等；t(9;11)(p21-22;q23)患者之间无差异。具有 t(8;21)(q22;q22)和 inv(16)(p13q22)易位的核心结合因子白血病发生率分别为 14%和 7%，主要发生在大龄儿童中，其预后良好。单体 7、5q 异常和 t(6;9)(p23;q34)患者的预后不良。3q 异常和复杂核型，在没有有利风险特征的情况下，与成人不良预后相关，但在本儿童系列中结果不显著。然而，12p 异常的存在预示着不良预后。
由于 AML 患儿与成人的染色体变化谱及其风险关联似乎不同，因此出现了生物学差异，这将有助于未来为不同年龄组重新定义风险分层。
