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

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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.