title: Gene mutations in malignant lymphoma.
abstract: Information on the cancer genome has accumulated rapidly, since approximately 2009, with the use of second-generation sequencing technology. Malignant lymphoma is no exception. In mature B-cell lymphomas, which constitute the vast majority of non-Hodgkin lymphomas, frequent mutations are identified in genes involved in signaling pathways, histone-modifying molecules, the DNA damage-response pathway, etc. The signaling pathways in which multiple genes are mutated include immune cell-specific pathways such as the B-cell receptor, the Toll-like receptor, and their downstream NF-κB signaling pathways, as well as the NOTCH signaling pathway. In mature T/NK-cell lymphomas, mutations accumulate in genes involved in the T-cell receptor pathway and its downstream NF-κB signaling pathway, regulators of DNA methylation, the JAK-STAT pathway, etc. Many of these mutations are found in multiple types of lymphomas but the frequencies of each gene mutation differ among diseases, demonstrating characteristic profiles. This cumulative and growing fund of knowledge provides an important basis for the development of new molecular-targeted drugs.
authors.affiliation: Department of Hematology, Faculty of Medicine, University of Tsukuba.
authors.forename: Shigeru
authors.initials: S
authors.lastname: Chiba
mesh_terms: D019175:DNA Methylation; D044127:Epigenesis, Genetic; D015972:Gene Expression Regulation, Neoplastic; D006801:Humans; D016393:Lymphoma, B-Cell / Q000235:genetics*; D016411:Lymphoma, T-Cell, Peripheral / Q000235:genetics*; D009154:Mutation