Haferlach T, Schnittger S, Kern W, Hiddemann W, Schoch C
Laboratory for Leukemia Diagnostics, Dept. of Internal Medicine III, University Hospital Grosshadern, Ludwig-Maximilians-University, Munich, Germany.
Ann Hematol. 2004;83 Suppl 1:S97-100. doi: 10.1007/s00277-004-0850-2.
In 50-60% of patients with acute myeloid leukemia (AML) acquired clonal chromosome aberrations can be observed after metaphase banding analyses. The cytogenetic results at diagnosis provide the most single important parameter for determining prognosis so far. Numerous recurrent karyotype abnormalities have been described in AML. These findings on the chromosomal level were followed and supplied by molecular studies that have identified genes involved in leukemogenesis. Even more, molecular markers such as MLL partial tandem duplications (MLL-PTD) or FLT3 length mutations (FLT3-LM) were found to characterize specific subtypes of AML and completed the genetic marker profile. The identification of specific chromosomal abnormalities or molecular markers and their correlation with cytomorphological features, immunophenotype as well as clinical outcome led to a new understanding of AML as a heterogeneous group of distinct biological entities. The importance of cytogenetic and molecular genetic findings in AML for classification and for the understanding of pathogenetic mechanisms is increasingly appreciated in clinical context and was translated also into the new WHO-classification of AML that uses cytogenetic abnormalities as a major criterion.
在50%-60%的急性髓系白血病（AML）患者中，中期显带分析后可观察到获得性克隆染色体畸变。目前，诊断时的细胞遗传学结果是判断预后最重要的单一参数。AML中已描述了许多复发性核型异常。染色体水平的这些发现之后有分子研究跟进并补充，这些分子研究确定了参与白血病发生的基因。甚至，还发现诸如MLL部分串联重复（MLL-PTD）或FLT3长度突变（FLT3-LM）等分子标志物可表征AML的特定亚型，并完善了遗传标志物谱。特定染色体异常或分子标志物的识别及其与细胞形态学特征、免疫表型以及临床结局的相关性，使人们对AML有了新的认识，即它是一组由不同生物学实体组成的异质性群体。在临床背景下，AML中细胞遗传学和分子遗传学发现对于分类以及理解致病机制的重要性越来越受到重视，这也被纳入了新的WHO AML分类中，该分类将细胞遗传学异常作为主要标准。
