Recent advances in understanding the molecular pathogenesis of myelodysplastic syndromes
Summary The advent of novel genomic sequencing technologies has aided the identification of somatically acquired genetic abnormalities up to 80% of myelodysplastic syndrome (MDS) patients. Novel recurrent genetic mutations in pathways such as RNA splicing, DNA methylation and histone modification an...
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| Veröffentlicht in: | British journal of haematology 2013-09, Vol.162 (5), p.587-605 |
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| container_title | British journal of haematology |
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| creator | Kulasekararaj, Austin G. Mohamedali, Azim M. Mufti, Ghulam J. |
| description | Summary
The advent of novel genomic sequencing technologies has aided the identification of somatically acquired genetic abnormalities up to 80% of myelodysplastic syndrome (MDS) patients. Novel recurrent genetic mutations in pathways such as RNA splicing, DNA methylation and histone modification and cohesion complexes, underscore the molecular heterogeneity seen in this clinically varied disease. Functional studies to establish a causative link between genomic aberrations and MDS biogenesis are still in their infancy. The deluge of this molecular information, once validated on a larger cohort, will be incorporated into prognostic systems and clinical practise, and also hopefully aid in MDS therapeutics, especially in guiding targeted therapy. |
| doi_str_mv | 10.1111/bjh.12435 |
| format | Article |
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The advent of novel genomic sequencing technologies has aided the identification of somatically acquired genetic abnormalities up to 80% of myelodysplastic syndrome (MDS) patients. Novel recurrent genetic mutations in pathways such as RNA splicing, DNA methylation and histone modification and cohesion complexes, underscore the molecular heterogeneity seen in this clinically varied disease. Functional studies to establish a causative link between genomic aberrations and MDS biogenesis are still in their infancy. The deluge of this molecular information, once validated on a larger cohort, will be incorporated into prognostic systems and clinical practise, and also hopefully aid in MDS therapeutics, especially in guiding targeted therapy.</description><identifier>ISSN: 0007-1048</identifier><identifier>EISSN: 1365-2141</identifier><identifier>DOI: 10.1111/bjh.12435</identifier><identifier>PMID: 23869491</identifier><identifier>CODEN: BJHEAL</identifier><language>eng</language><publisher>Oxford: Blackwell</publisher><subject>Biological and medical sciences ; Cell Transformation, Neoplastic - genetics ; Chromosome Aberrations ; Disease Progression ; Genetic Predisposition to Disease ; genomic sequencing ; Genotype ; Hematologic and hematopoietic diseases ; Humans ; Karyotyping ; Leukemia, Myeloid, Acute - genetics ; Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis ; Medical sciences ; molecular pathogenesis ; myelodysplastic syndromes ; Myelodysplastic Syndromes - genetics ; Phenotype ; Tumors</subject><ispartof>British journal of haematology, 2013-09, Vol.162 (5), p.587-605</ispartof><rights>2013 Crown copyright. British Journal of Haematology © 2013 John Wiley & Sons Ltd</rights><rights>2014 INIST-CNRS</rights><rights>2013 Crown copyright. British Journal of Haematology © 2013 John Wiley & Sons Ltd.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4545-27539c8c71c875de7fd24a6d983ed4a80ef02f9973d3f783f799965798707fa03</citedby><cites>FETCH-LOGICAL-c4545-27539c8c71c875de7fd24a6d983ed4a80ef02f9973d3f783f799965798707fa03</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1111%2Fbjh.12435$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1111%2Fbjh.12435$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,776,780,1411,1427,27901,27902,45550,45551,46384,46808</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=27668228$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/23869491$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Kulasekararaj, Austin G.</creatorcontrib><creatorcontrib>Mohamedali, Azim M.</creatorcontrib><creatorcontrib>Mufti, Ghulam J.</creatorcontrib><title>Recent advances in understanding the molecular pathogenesis of myelodysplastic syndromes</title><title>British journal of haematology</title><addtitle>Br J Haematol</addtitle><description>Summary
The advent of novel genomic sequencing technologies has aided the identification of somatically acquired genetic abnormalities up to 80% of myelodysplastic syndrome (MDS) patients. Novel recurrent genetic mutations in pathways such as RNA splicing, DNA methylation and histone modification and cohesion complexes, underscore the molecular heterogeneity seen in this clinically varied disease. Functional studies to establish a causative link between genomic aberrations and MDS biogenesis are still in their infancy. The deluge of this molecular information, once validated on a larger cohort, will be incorporated into prognostic systems and clinical practise, and also hopefully aid in MDS therapeutics, especially in guiding targeted therapy.</description><subject>Biological and medical sciences</subject><subject>Cell Transformation, Neoplastic - genetics</subject><subject>Chromosome Aberrations</subject><subject>Disease Progression</subject><subject>Genetic Predisposition to Disease</subject><subject>genomic sequencing</subject><subject>Genotype</subject><subject>Hematologic and hematopoietic diseases</subject><subject>Humans</subject><subject>Karyotyping</subject><subject>Leukemia, Myeloid, Acute - genetics</subject><subject>Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis</subject><subject>Medical sciences</subject><subject>molecular pathogenesis</subject><subject>myelodysplastic syndromes</subject><subject>Myelodysplastic Syndromes - genetics</subject><subject>Phenotype</subject><subject>Tumors</subject><issn>0007-1048</issn><issn>1365-2141</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2013</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp1kE1LHTEUhkOx1Kt20T8g2Qi6uJqvmSTLKn4VoVAqdDfE5MQ7ksnc5swo8-87em_tqgcOZ_PwvoeHkC-cnfJ5zh6eVqdcKFl9IAsu62opuOI7ZMEY00vOlNkle4hPjHHJKv6J7AppaqssX5BfP8BDHqgLzy57QNpmOuYABQeXQ5sf6bAC2vUJ_JhcoWs3rPpHyIAt0j7SboLUhwnXyeHQeopTDqXvAA_Ix-gSwuft3Sf3V5c_L26Wd9-vby--3i29qtT8qa6k9cZr7o2uAugYhHJ1sEZCUM4wiExEa7UMMmozr7W2rrQ1munomNwnx5vcdel_j4BD07XoISWXoR-x4UpaIZngZkZPNqgvPWKB2KxL27kyNZw1ryKbWWTzJnJmD7ex40MH4Z38a24GjraAQ-9SLLO-Fv9xuq6NEK-lZxvupU0w_b-xOf92s6n-A7LpiiE</recordid><startdate>201309</startdate><enddate>201309</enddate><creator>Kulasekararaj, Austin G.</creator><creator>Mohamedali, Azim M.</creator><creator>Mufti, Ghulam J.</creator><general>Blackwell</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7T5</scope><scope>H94</scope></search><sort><creationdate>201309</creationdate><title>Recent advances in understanding the molecular pathogenesis of myelodysplastic syndromes</title><author>Kulasekararaj, Austin G. ; Mohamedali, Azim M. ; Mufti, Ghulam J.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4545-27539c8c71c875de7fd24a6d983ed4a80ef02f9973d3f783f799965798707fa03</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2013</creationdate><topic>Biological and medical sciences</topic><topic>Cell Transformation, Neoplastic - genetics</topic><topic>Chromosome Aberrations</topic><topic>Disease Progression</topic><topic>Genetic Predisposition to Disease</topic><topic>genomic sequencing</topic><topic>Genotype</topic><topic>Hematologic and hematopoietic diseases</topic><topic>Humans</topic><topic>Karyotyping</topic><topic>Leukemia, Myeloid, Acute - genetics</topic><topic>Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis</topic><topic>Medical sciences</topic><topic>molecular pathogenesis</topic><topic>myelodysplastic syndromes</topic><topic>Myelodysplastic Syndromes - genetics</topic><topic>Phenotype</topic><topic>Tumors</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Kulasekararaj, Austin G.</creatorcontrib><creatorcontrib>Mohamedali, Azim M.</creatorcontrib><creatorcontrib>Mufti, Ghulam J.</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Immunology Abstracts</collection><collection>AIDS and Cancer Research Abstracts</collection><jtitle>British journal of haematology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Kulasekararaj, Austin G.</au><au>Mohamedali, Azim M.</au><au>Mufti, Ghulam J.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Recent advances in understanding the molecular pathogenesis of myelodysplastic syndromes</atitle><jtitle>British journal of haematology</jtitle><addtitle>Br J Haematol</addtitle><date>2013-09</date><risdate>2013</risdate><volume>162</volume><issue>5</issue><spage>587</spage><epage>605</epage><pages>587-605</pages><issn>0007-1048</issn><eissn>1365-2141</eissn><coden>BJHEAL</coden><abstract>Summary
The advent of novel genomic sequencing technologies has aided the identification of somatically acquired genetic abnormalities up to 80% of myelodysplastic syndrome (MDS) patients. Novel recurrent genetic mutations in pathways such as RNA splicing, DNA methylation and histone modification and cohesion complexes, underscore the molecular heterogeneity seen in this clinically varied disease. Functional studies to establish a causative link between genomic aberrations and MDS biogenesis are still in their infancy. The deluge of this molecular information, once validated on a larger cohort, will be incorporated into prognostic systems and clinical practise, and also hopefully aid in MDS therapeutics, especially in guiding targeted therapy.</abstract><cop>Oxford</cop><pub>Blackwell</pub><pmid>23869491</pmid><doi>10.1111/bjh.12435</doi><tpages>19</tpages></addata></record> |
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| ispartof | British journal of haematology, 2013-09, Vol.162 (5), p.587-605 |
| issn | 0007-1048 1365-2141 |
| language | eng |
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| source | MEDLINE; Wiley Online Library Journals Frontfile Complete; Wiley Online Library Free Content; EZB-FREE-00999 freely available EZB journals |
| subjects | Biological and medical sciences Cell Transformation, Neoplastic - genetics Chromosome Aberrations Disease Progression Genetic Predisposition to Disease genomic sequencing Genotype Hematologic and hematopoietic diseases Humans Karyotyping Leukemia, Myeloid, Acute - genetics Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis Medical sciences molecular pathogenesis myelodysplastic syndromes Myelodysplastic Syndromes - genetics Phenotype Tumors |
| title | Recent advances in understanding the molecular pathogenesis of myelodysplastic syndromes |
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