Analysis of regulatory mechanism of hematopoiesis and exploration of the pathogenesis of hematopoietic neoplasms through comprehensive genetic analysis

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Hematopoietic neoplasms are caused by deregulation of normal components of the hematopoietic system by gene mutations. In fact, many of genetic changes identified as a cause of hematopoietic neoplasms involves those genes implicated in normal regulation of hematopoiesis. In this study, we performed comprehensive genetic analyses of more than 2,000 hematopoietic neoplasms using high-density SNP arrays. We identified a number of genetic alterations involved in the pathogenesis of hematopoietic neoplasms, including gain-of-function mutations of c-CBL in myeloid neoplasms and inactivation mutations of A20 in B-lineage lymphomas, followed by their functional analysis. These findings are thought to contribute not only to our understanding of molecular pathogenesis of hematopoietic cancers, but also to adding our knowledge on regulatory mechanisms of normal hematopoiesis, together with the development of novel diagnostics and therapeutics for these neoplasms.