Schlenk Richard F, Döhner Hartmut
1Department of Internal Medicine III, University Hospital Ulm, Ulm, Germany.
Hematology Am Soc Hematol Educ Program. 2013;2013:324-30. doi: 10.1182/asheducation-2013.1.324.
In recent years, research in genomics has resulted in the rapid uncovering of the molecular pathogenesis of acute myeloid leukemia (AML). The identification of the genetic determinants of response to standard-but also to experimental-treatment is increasingly used for patient counseling, to guide clinical decision making, and for resource-efficient care provision at diagnosis, during consolidation treatment and follow-up, and after relapse. Gene mutations now allow us to explore the enormous diversity among cytogenetically defined subsets of AML, in particular the large subset of cytogenetically normal AML. Nonetheless, there are several challenges in evaluating the prognostic value of a specific mutation in the concert of the various concurrent mutations and determining the relative prognostic value of the genetic profile during the disease course. In particular, changes in the genetic profile in relapse compared with that at diagnosis will increasingly affect the treatment strategy at relapse, but also will give us the possibility of learning which treatment strategy during frontline therapy is best to prevent them.
近年来，基因组学研究迅速揭示了急性髓系白血病（AML）的分子发病机制。对标准治疗以及实验性治疗反应的遗传决定因素的鉴定越来越多地用于患者咨询、指导临床决策，以及在诊断时、巩固治疗期间和随访期间以及复发后提供资源高效的护理。基因突变现在使我们能够探索AML细胞遗传学定义亚组之间的巨大差异，特别是细胞遗传学正常的AML这一较大亚组。然而，在评估特定突变在各种并发突变组合中的预后价值以及确定疾病过程中基因谱的相对预后价值方面存在若干挑战。特别是，复发时与诊断时相比基因谱的变化将越来越影响复发时的治疗策略，但也将使我们有可能了解一线治疗期间哪种治疗策略最能预防这些变化。
