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急性髓系白血病及其他髓系恶性肿瘤中的DNMT3A和IDH突变:与预后的关联及潜在治疗策略

DNMT3A and IDH mutations in acute myeloid leukemia and other myeloid malignancies: associations with prognosis and potential treatment strategies.

作者信息

Im A P, Sehgal A R, Carroll M P, Smith B D, Tefferi A, Johnson D E, Boyiadzis M

机构信息

Division of Hematology/Oncology, University of Pittsburgh Cancer Institute, Pittsburgh, PA, USA.

Division of Hematology and Oncology, University of Pennsylvania, Philadelphia, PA, USA.

出版信息

Leukemia. 2014 Sep;28(9):1774-83. doi: 10.1038/leu.2014.124. Epub 2014 Apr 4.

Abstract

The development of effective treatment strategies for most forms of acute myeloid leukemia (AML) has languished for the past several decades. There are a number of reasons for this, but key among them is the considerable heterogeneity of this disease and the paucity of molecular markers that can be used to predict clinical outcomes and responsiveness to different therapies. The recent large-scale sequencing of AML genomes is now providing opportunities for patient stratification and personalized approaches to treatment that are based on individual mutational profiles. It is particularly notable that studies by The Cancer Genome Atlas and others have determined that 44% of patients with AML exhibit mutations in genes that regulate methylation of genomic DNA. In particular, frequent mutation has been observed in the genes encoding DNA methyltransferase 3A (DNMT3A), isocitrate dehydrogenase 1 (IDH1) and isocitrate dehydrogenase 2 (IDH2), as well as Tet oncogene family member 2. This review will summarize the incidence of these mutations, their impact on biochemical functions including epigenetic modification of genomic DNA and their potential usefulness as prognostic indicators. Importantly, the presence of DNMT3A, IDH1 or IDH2 mutations may confer sensitivity to novel therapeutic approaches, including the use of demethylating agents. Therefore, the clinical experience with decitabine and azacitidine in the treatment of patients harboring these mutations will be reviewed. Overall, we propose that understanding the role of these mutations in AML biology will lead to more rational therapeutic approaches targeting molecularly defined subtypes of the disease.

摘要

在过去几十年里,针对大多数急性髓系白血病(AML)的有效治疗策略进展缓慢。造成这种情况的原因有很多,但其中关键的一点是该疾病存在显著的异质性,且缺乏可用于预测临床结果和对不同疗法反应性的分子标志物。近期对AML基因组的大规模测序为基于个体突变谱的患者分层和个性化治疗方法提供了机会。特别值得注意的是,癌症基因组图谱研究组及其他研究机构确定,44%的AML患者在调控基因组DNA甲基化的基因中存在突变。具体而言,在编码DNA甲基转移酶3A(DNMT3A)、异柠檬酸脱氢酶1(IDH1)和异柠檬酸脱氢酶2(IDH2)以及Tet癌基因家族成员2的基因中观察到频繁突变。本综述将总结这些突变的发生率、它们对包括基因组DNA表观遗传修饰在内的生化功能的影响以及它们作为预后指标的潜在用途。重要的是,DNMT3A、IDH1或IDH2突变的存在可能使患者对包括使用去甲基化药物在内的新型治疗方法敏感。因此,将对地西他滨和阿扎胞苷治疗携带这些突变患者的临床经验进行综述。总体而言,我们认为了解这些突变在AML生物学中的作用将有助于针对该疾病分子定义的亚型制定更合理的治疗方法。

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