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Recent advances in myelodysplastic syndromes: Molecular pathogenesis and its implications for targeted therapies

Myelodysplastic syndromes (MDS) are defined as stem cell disorders caused by various gene abnormalities. Recent analysis using next-generation sequencing has provided great advances in identifying relationships between gene mutations and clinical phenotypes of MDS. Gene mutations affecting RNA splic...

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Detalles Bibliográficos
Autores principales: Harada, Hironori, Harada, Yuka
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BlackWell Publishing Ltd 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4409874/
https://www.ncbi.nlm.nih.gov/pubmed/25611784
http://dx.doi.org/10.1111/cas.12614
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author Harada, Hironori
Harada, Yuka
author_facet Harada, Hironori
Harada, Yuka
author_sort Harada, Hironori
collection PubMed
description Myelodysplastic syndromes (MDS) are defined as stem cell disorders caused by various gene abnormalities. Recent analysis using next-generation sequencing has provided great advances in identifying relationships between gene mutations and clinical phenotypes of MDS. Gene mutations affecting RNA splicing machinery, DNA methylation, histone modifications, transcription factors, signal transduction proteins and components of the cohesion complex participate in the pathogenesis and progression of MDS. Mutations in RNA splicing and DNA methylation occur early and are considered “founding mutations”, whereas others that occur later are regarded as “subclonal mutations”. RUNX1 mutations are more likely to subclonal; however, they apparently play a pivotal role in familial MDS. These genetic findings may lead to future therapies for MDS.
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spelling pubmed-44098742015-10-05 Recent advances in myelodysplastic syndromes: Molecular pathogenesis and its implications for targeted therapies Harada, Hironori Harada, Yuka Cancer Sci Review Articles Myelodysplastic syndromes (MDS) are defined as stem cell disorders caused by various gene abnormalities. Recent analysis using next-generation sequencing has provided great advances in identifying relationships between gene mutations and clinical phenotypes of MDS. Gene mutations affecting RNA splicing machinery, DNA methylation, histone modifications, transcription factors, signal transduction proteins and components of the cohesion complex participate in the pathogenesis and progression of MDS. Mutations in RNA splicing and DNA methylation occur early and are considered “founding mutations”, whereas others that occur later are regarded as “subclonal mutations”. RUNX1 mutations are more likely to subclonal; however, they apparently play a pivotal role in familial MDS. These genetic findings may lead to future therapies for MDS. BlackWell Publishing Ltd 2015-04 2015-02-25 /pmc/articles/PMC4409874/ /pubmed/25611784 http://dx.doi.org/10.1111/cas.12614 Text en © 2015 The Authors. Cancer Science published by Wiley Publishing Asia Pty Ltd on behalf of Japanese Cancer Association. http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made.
spellingShingle Review Articles
Harada, Hironori
Harada, Yuka
Recent advances in myelodysplastic syndromes: Molecular pathogenesis and its implications for targeted therapies
title Recent advances in myelodysplastic syndromes: Molecular pathogenesis and its implications for targeted therapies
title_full Recent advances in myelodysplastic syndromes: Molecular pathogenesis and its implications for targeted therapies
title_fullStr Recent advances in myelodysplastic syndromes: Molecular pathogenesis and its implications for targeted therapies
title_full_unstemmed Recent advances in myelodysplastic syndromes: Molecular pathogenesis and its implications for targeted therapies
title_short Recent advances in myelodysplastic syndromes: Molecular pathogenesis and its implications for targeted therapies
title_sort recent advances in myelodysplastic syndromes: molecular pathogenesis and its implications for targeted therapies
topic Review Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4409874/
https://www.ncbi.nlm.nih.gov/pubmed/25611784
http://dx.doi.org/10.1111/cas.12614
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