Funding information Japan Society for the Promotion of Science (KAKENHI) (24390241, 23659482, 23118503, 22130002 and 25461407). Ministry of Education, Culture, Sports, Science and Technology of Japan.
Disease-specific mutations in mature lymphoid neoplasms: Recent advances
Article first published online: 12 MAY 2014
© 2014 The Authors. Cancer Science published by Wiley Publishing Asia Pty Ltd on behalf of Japanese Cancer Association.
This is an open access article under the terms of the Creative Commons Attribution-NonCommercial License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.
Volume 105, Issue 6, pages 623–629, June 2014
How to Cite
Cancer Sci 105 (2014) 623–629
- Issue published online: 4 JUN 2014
- Article first published online: 12 MAY 2014
- Accepted manuscript online: 1 APR 2014 11:40PM EST
- Manuscript Accepted: 28 MAR 2014
- Manuscript Revised: 27 MAR 2014
- Manuscript Received: 10 FEB 2014
- Japan Society for the Promotion of Science (KAKENHI). Grant Numbers: 24390241, 23659482, 23118503, 22130002, 25461407
- Ministry of Education, Culture, Sports, Science and Technology of Japan
- Drug targeting;
- genetic testing;
- high-throughput nucleotide sequencing;
- molecular medicine
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.