Clinical Research Division, Fred Hutchinson Cancer Research Center, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA.
Semin Hematol. 2013 Oct;50(4):325-32. doi: 10.1053/j.seminhematol.2013.09.003.
Acute myeloid leukemia (AML) is a complex and heterogeneous disease with distinct age-associated genomic and epigenomic alterations. A large number of somatic karyotypic and molecular alterations have been identified in AML to date; however, very few predict outcome or identify potential therapeutic targets. Here we describe the current state of known molecular and genetic alterations in pediatric AML. Further, as recent advances in sequencing technologies have revolutionized our ability to interrogate cancer genome, transcriptome, and epigenome, we will also review the emerging genomic data identified by next-generation sequencing and discuss their potential impact as tools for therapeutic interventions in the near future. In coming years, a wealth of data from large-scale discovery phase projects such as the Children's Oncology Group/ National Cancer Institute (COG/NCI) TARGET AML initiative will be available to researchers to discover new biomarkers for risk and target identification in pediatric AML.
急性髓细胞白血病（AML）是一种复杂的异质性疾病，具有明显的与年龄相关的基因组和表观基因组改变。迄今为止，已经在 AML 中鉴定出大量的体细胞核型和分子改变；然而，很少有能预测结果或确定潜在治疗靶点的改变。在这里，我们描述了目前已知的儿科 AML 的分子和遗传改变的状态。此外，随着测序技术的最新进展极大地提高了我们检测癌症基因组、转录组和表观基因组的能力，我们还将回顾下一代测序确定的新兴基因组数据，并讨论它们作为治疗干预工具在不久的将来的潜在影响。在未来几年中，儿童肿瘤学组/美国国家癌症研究所（COG/NCI）TARGET AML 倡议等大规模发现阶段项目的大量数据将提供给研究人员，以发现儿科 AML 中风险和靶点识别的新生物标志物。
