文章：

核型复杂度与急性髓系白血病的预后

Karyotype complexity and prognosis in acute myeloid leukemia

原文发布日期：2016-01-15

DOI: 10.1038/bcj.2015.114

类型: Original Article

开放获取: 是

英文摘要：

A complex aberrant karyotype consisting of multiple unrelated cytogenetic abnormalities is associated with poor prognosis in patients with acute myeloid leukemia (AML). The European Leukemia Net classification and the UK Medical Research Council recommendation provide prognostic categories that differ in the definition of unbalanced aberrations as well as the number of single aberrations. The aim of this study on 3526 AML patients was to redefine and validate a cutoff for karyotype complexity in AML with regard to adverse prognosis. Our study demonstrated that (1) patients with a pure hyperdiploid karyotype have an adverse risk irrespective of the number of chromosomal gains, (2) patients with translocation t(9;11)(p21∼22;q23) have an intermediate risk independent of the number of additional aberrations, (3) patients with ⩾4 abnormalities have an adverse risk per se and (4) patients with three aberrations in the absence of abnormalities of strong influence (hyperdiploid karyotype, t(9;11)(p21∼22;q23), CBF-AML, unique adverse-risk aberrations) have borderline intermediate/adverse risk with a reduced overall survival compared with patients with a normal karyotype.

摘要翻译： 

一种包含多个无关细胞遗传学异常的复杂异常核型与急性髓系白血病（AML）患者的不良预后相关。欧洲白血病网分类和英国医学研究委员会建议提供的预后分类在非平衡畸变的定义以及单一异常数量方面存在差异。本研究对3526例AML患者进行分析，旨在重新定义并验证针对不良预后的AML核型复杂性临界值。我们的研究表明：（1）单纯超二倍体核型患者无论染色体增益数量多少均存在不良风险；（2）携带t(9;11)(p21∼22;q23)易位的患者无论额外异常数量多少均属于中危风险；（3）具有≥4种异常的患者本身即存在不良风险；（4）在无强影响因素（超二倍体核型、t(9;11)(p21∼22;q23)、CBF-AML、独特不良风险异常）的情况下携带三种异常的患者处于中危/不良风险边界，其总生存期较正常核型患者缩短。

原文链接：

Karyotype complexity and prognosis in acute myeloid leukemia