Department of Oncology, Karmanos Cancer Institute, Wayne State University School of Medicine, Detroit, MI, USA.
Expert Rev Hematol. 2012 Aug;5(4):395-407. doi: 10.1586/ehm.12.32.
Recent progress in the molecular genetics of acute myeloid leukemia (AML) has shown this disease to be more heterogeneous than previously realized. Recurrent cytogenetic and mutational changes in leukemic blasts have been confirmed to have high prognostic significance. High-throughput techniques to analyze the AML genome in greater depth have revealed novel mutations with putative roles in leukemogenesis. The use of prognostic biomarkers has allowed for a more detailed categorization of AML based on risk. Despite this tremendous progress, the understanding of the mechanisms by which these changes influence leukemia growth and response to treatment is still limited, which in turn has hindered the development of rationally targeted therapies for AML. The integration of clinical, cytogenetic and molecular data will be essential to translate the current research momentum into better outcomes for patients with AML.
近年来,急性髓系白血病(AML)的分子遗传学研究取得了进展,表明该疾病比以前认识到的更加具有异质性。白血病细胞中的反复出现的细胞遗传学和突变变化已被证实具有高度的预后意义。高通量技术分析 AML 基因组的深度揭示了具有潜在白血病发生作用的新突变。预后生物标志物的使用允许根据风险对 AML 进行更详细的分类。尽管取得了巨大的进展,但对这些变化影响白血病生长和对治疗反应的机制的理解仍然有限,这反过来又阻碍了针对 AML 的合理靶向治疗的发展。将临床、细胞遗传学和分子数据整合起来对于将当前的研究势头转化为 AML 患者更好的治疗结果至关重要。