Identification of gene targets for molecular diagnosis and therapeutics in hematopoietic malignancies based on advanced genomics

造血系统肿瘤是由遗传改变引起的，因此，识别肿瘤过程中涉及的遗传变化谱对于开发新的诊断和治疗方法至关重要。在这项研究中，我们使用高密度SNP阵列对2,000多例造血肿瘤进行了全面的遗传分析。通过高通量分析，我们发现了许多与造血系统肿瘤发病相关的基因改变，包括骨髓增生异常综合征中的c-CBL和IDH 1/2突变，以及非霍奇金淋巴瘤中的A20失活突变/缺失。结合随后对这些突变的功能研究，我们的发现为造血系统恶性肿瘤的分子发病机制提供了重要的见解。

Hematopoietic neoplasms are caused by genetic alterations and as such, it is essential to identify the spectrum of genetic changes incriminated in the neoplastic processes for the development of novel diagnostics and therapeutics. In this study, we performed comprehensive genetic analyses of more than 2,000 hematopoietic neoplasms using high-density SNP arrays. Though the high-throughput analysis we identified a number of genetic changes that are relevant to the pathogenesis of hematopoietic neoplasms, including mutations of c-CBL and IDH1/2 in myelodysplastic syndromes, and inactivating mutation/deletion of A20 in non-Hodgkin lymphoma. Combined with subsequent functional studies on these mutations, our finding provide an important insight into the molecular pathogenesis of hemaopoietic malignancies.