The genetic basis of myelodysplasia and its clinical relevance
Identifieur interne : 002C80 ( Pmc/Corpus ); précédent : 002C79; suivant : 002C81The genetic basis of myelodysplasia and its clinical relevance
Auteurs : Mario Cazzola ; Matteo G. Della Porta ; Luca MalcovatiSource :
- Blood [ 0006-4971 ] ; 2013.
Abstract
Myelodysplasia is a diagnostic feature of myelodysplastic syndromes (MDSs) but is also found in other myeloid neoplasms. Its molecular basis has been recently elucidated by means of massive parallel sequencing studies. About 90% of MDS patients carry ≥1 oncogenic mutations, and two thirds of them are found in individuals with a normal karyotype. Driver mutant genes include those of RNA splicing (
Url:
DOI: 10.1182/blood-2013-09-381665
PubMed: 24136165
PubMed Central: 3862275
Links to Exploration step
PMC:3862275Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">The genetic basis of myelodysplasia and its clinical relevance</title>
<author><name sortKey="Cazzola, Mario" sort="Cazzola, Mario" uniqKey="Cazzola M" first="Mario" last="Cazzola">Mario Cazzola</name>
<affiliation><nlm:aff wicri:cut="; and" id="aff1">Department of Hematology Oncology, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico Policlinico San Matteo, Pavia, Italy</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="aff2"></nlm:aff>
</affiliation>
</author>
<author><name sortKey="Della Porta, Matteo G" sort="Della Porta, Matteo G" uniqKey="Della Porta M" first="Matteo G." last="Della Porta">Matteo G. Della Porta</name>
<affiliation><nlm:aff wicri:cut="; and" id="aff1">Department of Hematology Oncology, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico Policlinico San Matteo, Pavia, Italy</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="aff3">Internal Medicine, University of Pavia, Pavia, Italy</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Malcovati, Luca" sort="Malcovati, Luca" uniqKey="Malcovati L" first="Luca" last="Malcovati">Luca Malcovati</name>
<affiliation><nlm:aff wicri:cut="; and" id="aff1">Department of Hematology Oncology, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico Policlinico San Matteo, Pavia, Italy</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="aff2"></nlm:aff>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PMC</idno>
<idno type="pmid">24136165</idno>
<idno type="pmc">3862275</idno>
<idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3862275</idno>
<idno type="RBID">PMC:3862275</idno>
<idno type="doi">10.1182/blood-2013-09-381665</idno>
<date when="2013">2013</date>
<idno type="wicri:Area/Pmc/Corpus">002C80</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">002C80</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">The genetic basis of myelodysplasia and its clinical relevance</title>
<author><name sortKey="Cazzola, Mario" sort="Cazzola, Mario" uniqKey="Cazzola M" first="Mario" last="Cazzola">Mario Cazzola</name>
<affiliation><nlm:aff wicri:cut="; and" id="aff1">Department of Hematology Oncology, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico Policlinico San Matteo, Pavia, Italy</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="aff2"></nlm:aff>
</affiliation>
</author>
<author><name sortKey="Della Porta, Matteo G" sort="Della Porta, Matteo G" uniqKey="Della Porta M" first="Matteo G." last="Della Porta">Matteo G. Della Porta</name>
<affiliation><nlm:aff wicri:cut="; and" id="aff1">Department of Hematology Oncology, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico Policlinico San Matteo, Pavia, Italy</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="aff3">Internal Medicine, University of Pavia, Pavia, Italy</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Malcovati, Luca" sort="Malcovati, Luca" uniqKey="Malcovati L" first="Luca" last="Malcovati">Luca Malcovati</name>
<affiliation><nlm:aff wicri:cut="; and" id="aff1">Department of Hematology Oncology, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico Policlinico San Matteo, Pavia, Italy</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="aff2"></nlm:aff>
</affiliation>
</author>
</analytic>
<series><title level="j">Blood</title>
<idno type="ISSN">0006-4971</idno>
<idno type="eISSN">1528-0020</idno>
<imprint><date when="2013">2013</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass></textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en"><p>Myelodysplasia is a diagnostic feature of myelodysplastic syndromes (MDSs) but is also found in other myeloid neoplasms. Its molecular basis has been recently elucidated by means of massive parallel sequencing studies. About 90% of MDS patients carry ≥1 oncogenic mutations, and two thirds of them are found in individuals with a normal karyotype. Driver mutant genes include those of RNA splicing (<italic>SF3B1</italic>
, <italic>SRSF2</italic>
, <italic>U2AF1,</italic>
and <italic>ZRSR2</italic>
), DNA methylation (<italic>TET2</italic>
, <italic>DNMT3A</italic>
, and <italic>IDH1</italic>
/<italic>2</italic>
), chromatin modification (<italic>ASXL1</italic>
and <italic>EZH2</italic>
), transcription regulation (<italic>RUNX1</italic>
), DNA repair (<italic>TP53</italic>
), signal transduction (<italic>CBL, NRAS</italic>
, and <italic>KRAS</italic>
), and cohesin complex (<italic>STAG2</italic>
). Only 4 to 6 genes are consistently mutated in ≥10% MDS patients, whereas a long tail of ∼50 genes are mutated less frequently. At presentation, most patients typically have 2 or 3 driver oncogenic mutations and hundreds of background mutations. MDS driver genes are also frequently mutated in other myeloid neoplasms. Reliable genotype/phenotype relationships include the association of the <italic>SF3B1</italic>
mutation with refractory anemia with ring sideroblasts, <italic>TET2</italic>
/<italic>SRSF2</italic>
comutation with chronic myelomonocytic leukemia, and activating <italic>CSF3R</italic>
mutation with chronic neutrophilic leukemia. Although both founding and subclonal driver mutations have been shown to have prognostic significance, prospective clinical trials that include the molecular characterization of the patient’s genome are now needed.</p>
</div>
</front>
</TEI>
<pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Blood</journal-id>
<journal-id journal-id-type="iso-abbrev">Blood</journal-id>
<journal-id journal-id-type="hwp">bloodjournal</journal-id>
<journal-id journal-id-type="pmc">blood</journal-id>
<journal-id journal-id-type="publisher-id">Blood</journal-id>
<journal-title-group><journal-title>Blood</journal-title>
</journal-title-group>
<issn pub-type="ppub">0006-4971</issn>
<issn pub-type="epub">1528-0020</issn>
<publisher><publisher-name>American Society of Hematology</publisher-name>
<publisher-loc>Washington, DC</publisher-loc>
</publisher>
</journal-meta>
<article-meta><article-id pub-id-type="pmid">24136165</article-id>
<article-id pub-id-type="pmc">3862275</article-id>
<article-id pub-id-type="publisher-id">2013/381665</article-id>
<article-id pub-id-type="doi">10.1182/blood-2013-09-381665</article-id>
<article-categories><subj-group subj-group-type="hwp-journal-coll"><subject>1</subject>
<subject>29</subject>
<subject>33</subject>
</subj-group>
<subj-group subj-group-type="heading"><subject>Perspectives</subject>
</subj-group>
</article-categories>
<title-group><article-title>The genetic basis of myelodysplasia and its clinical relevance</article-title>
</title-group>
<contrib-group><contrib contrib-type="author" corresp="yes"><name><surname>Cazzola</surname>
<given-names>Mario</given-names>
</name>
<xref ref-type="aff" rid="aff1">1</xref>
<xref ref-type="aff" rid="aff2">2</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Della Porta</surname>
<given-names>Matteo G.</given-names>
</name>
<xref ref-type="aff" rid="aff1">1</xref>
<xref ref-type="aff" rid="aff3">3</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Malcovati</surname>
<given-names>Luca</given-names>
</name>
<xref ref-type="aff" rid="aff1">1</xref>
<xref ref-type="aff" rid="aff2">2</xref>
</contrib>
<aff id="aff1"><label>1</label>
Department of Hematology Oncology, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico Policlinico San Matteo, Pavia, Italy; and</aff>
<aff id="aff2">Departments of<label>2</label>
Molecular Medicine and</aff>
<aff id="aff3"><label>3</label>
Internal Medicine, University of Pavia, Pavia, Italy</aff>
</contrib-group>
<pub-date pub-type="ppub"><day>12</day>
<month>12</month>
<year>2013</year>
</pub-date>
<pub-date pub-type="epreprint"><day>17</day>
<month>10</month>
<year>2013</year>
</pub-date>
<pub-date pub-type="pmc-release"><day>12</day>
<month>12</month>
<year>2013</year>
</pub-date>
<volume>122</volume>
<issue>25</issue>
<fpage>4021</fpage>
<lpage>4034</lpage>
<history><date date-type="received"><day>30</day>
<month>8</month>
<year>2013</year>
</date>
<date date-type="accepted"><day>08</day>
<month>10</month>
<year>2013</year>
</date>
</history>
<permissions><copyright-statement>© 2013 by The American Society of Hematology</copyright-statement>
<copyright-year>2013</copyright-year>
</permissions>
<self-uri xlink:title="pdf" xlink:type="simple" xlink:href="4021.pdf"></self-uri>
<abstract><p>Myelodysplasia is a diagnostic feature of myelodysplastic syndromes (MDSs) but is also found in other myeloid neoplasms. Its molecular basis has been recently elucidated by means of massive parallel sequencing studies. About 90% of MDS patients carry ≥1 oncogenic mutations, and two thirds of them are found in individuals with a normal karyotype. Driver mutant genes include those of RNA splicing (<italic>SF3B1</italic>
, <italic>SRSF2</italic>
, <italic>U2AF1,</italic>
and <italic>ZRSR2</italic>
), DNA methylation (<italic>TET2</italic>
, <italic>DNMT3A</italic>
, and <italic>IDH1</italic>
/<italic>2</italic>
), chromatin modification (<italic>ASXL1</italic>
and <italic>EZH2</italic>
), transcription regulation (<italic>RUNX1</italic>
), DNA repair (<italic>TP53</italic>
), signal transduction (<italic>CBL, NRAS</italic>
, and <italic>KRAS</italic>
), and cohesin complex (<italic>STAG2</italic>
). Only 4 to 6 genes are consistently mutated in ≥10% MDS patients, whereas a long tail of ∼50 genes are mutated less frequently. At presentation, most patients typically have 2 or 3 driver oncogenic mutations and hundreds of background mutations. MDS driver genes are also frequently mutated in other myeloid neoplasms. Reliable genotype/phenotype relationships include the association of the <italic>SF3B1</italic>
mutation with refractory anemia with ring sideroblasts, <italic>TET2</italic>
/<italic>SRSF2</italic>
comutation with chronic myelomonocytic leukemia, and activating <italic>CSF3R</italic>
mutation with chronic neutrophilic leukemia. Although both founding and subclonal driver mutations have been shown to have prognostic significance, prospective clinical trials that include the molecular characterization of the patient’s genome are now needed.</p>
</abstract>
<counts><page-count count="14"></page-count>
</counts>
<custom-meta-group><custom-meta><meta-name>access</meta-name>
<meta-value>free</meta-value>
</custom-meta>
</custom-meta-group>
</article-meta>
</front>
</pmc>
</record>
Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/LymphedemaV1/Data/Pmc/Corpus
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 002C80 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Pmc/Corpus/biblio.hfd -nk 002C80 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien |wiki= Wicri/Sante |area= LymphedemaV1 |flux= Pmc |étape= Corpus |type= RBID |clé= PMC:3862275 |texte= The genetic basis of myelodysplasia and its clinical relevance }}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Pmc/Corpus/RBID.i -Sk "pubmed:24136165" \ | HfdSelect -Kh $EXPLOR_AREA/Data/Pmc/Corpus/biblio.hfd \ | NlmPubMed2Wicri -a LymphedemaV1
This area was generated with Dilib version V0.6.31. |