title: Disease-specific mutations in mature lymphoid neoplasms: recent advances.
abstract: Mature lymphoid neoplasms (MLN) are clinically and pathologically more complex than precursor lymphoid neoplasms. Until recently, molecular characterization of MLN was mainly based on cytogenetics/fluorescence in situ hybridization, allele copy number, and mRNA expression, approaches that yielded scanty gene mutation information. Use of massive parallel sequencing technologies has changed this outcome, and now many gene mutations have been discovered. Some of these are considerably frequent in, and substantially specific to, distinct MLN subtypes, and occur at single or several hotspots. They include the V600E BRAF mutation in hairy cell leukemia, the L265P MYD88 mutation in Waldenström macroglobulinemia, the G17V RHOA mutation in angioimmunoblastic T-cell lymphoma and peripheral T-cell lymphoma, not otherwise specified, and the Y640F//D661Y/V/H/I//N647I STAT3 mutations in T-cell large granular lymphocytic leukemia. Detecting these mutations is highly valuable in diagnosing MLN subtypes. Defining these mutations also sheds light on the molecular pathogenesis of MLN, furthering development of molecular targeting therapies. In this review, we focus on the disease-specific gene mutations in MLN discovered by recent massive sequencing technologies.
authors.affiliation: Department of Hematology, Graduate School of Comprehensive Human Sciences, University of Tsukuba, Tsukuba, Japan; Department of Hematology, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan; Department of Hematology, University of Tsukuba Hospital, Tsukuba, Japan.
authors.forename: Mamiko
authors.initials: M
authors.lastname: Sakata-Yanagimoto
authors.forename: Terukazu
authors.initials: T
authors.lastname: Enami
authors.forename: Yasuhisa
authors.initials: Y
authors.lastname: Yokoyama
authors.forename: Shigeru
authors.initials: S
authors.lastname: Chiba
mesh_terms: D002051:Burkitt Lymphoma / Q000235:genetics*; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D051796:Inhibitor of Differentiation Proteins / Q000235:genetics; D053616:Janus Kinase 3 / Q000235:genetics; D007943:Leukemia, Hairy Cell / Q000235:genetics*; D054066:Leukemia, Large Granular Lymphocytic / Q000235:genetics*; D016399:Lymphoma, T-Cell / Q000235:genetics*; D009154:Mutation / Q000235:genetics; D053594:Myeloid Differentiation Factor 88 / Q000235:genetics; D009363:Neoplasm Proteins / Q000235:genetics; D048493:Proto-Oncogene Proteins B-raf / Q000235:genetics; D051883:Receptor, Notch2; D050796:STAT3 Transcription Factor / Q000235:genetics; D008258:Waldenstrom Macroglobulinemia / Q000235:genetics*; D020742:rhoA GTP-Binding Protein / Q000235:genetics
chemical_list: D051796:Inhibitor of Differentiation Proteins; C507779:MYD88 protein, human; D053594:Myeloid Differentiation Factor 88; C497764:NOTCH2 protein, human; D009363:Neoplasm Proteins; D051883:Receptor, Notch2; D050796:STAT3 Transcription Factor; C494086:STAT3 protein, human; C066737:RHOA protein, human; C075640:ID3 protein, human; C507933:JAK3 protein, human; D053616:Janus Kinase 3; C482119:BRAF protein, human; D048493:Proto-Oncogene Proteins B-raf; D020742:rhoA GTP-Binding Protein
keywords: Drug targeting; genetic testing; high-throughput nucleotide sequencing; lymphoma; molecular medicine