High frequency of GATA2 mutations in patients with mild chronic neutropenia evolving to MonoMac syndrome, myelodysplasia, and acute myeloid leukemia
Identifieur interne : 002C73 ( Pmc/Corpus ); précédent : 002C72; suivant : 002C74High frequency of GATA2 mutations in patients with mild chronic neutropenia evolving to MonoMac syndrome, myelodysplasia, and acute myeloid leukemia
Auteurs : Marlène Pasquet ; Christine Bellanné-Chantelot ; Suzanne Tavitian ; Naïs Prade ; Blandine Beaupain ; Olivier Larochelle ; Arnaud Petit ; Pierre Rohrlich ; Christophe Ferrand ; Eric Van Den Neste ; Hélène A. Poirel ; Thierry Lamy ; Marie Ouachée-Chardin ; Véronique Mansat-De Mas ; Jill Corre ; Christian Récher ; Geneviève Plat ; Françoise Bachelerie ; Jean Donadieu ; Eric DelabesseSource :
- Blood [ 0006-4971 ] ; 2013.
Abstract
Mutations of key transcription factor in myeloid malignancies.
Url:
DOI: 10.1182/blood-2012-08-447367
PubMed: 23223431
PubMed Central: 3714670
Links to Exploration step
PMC:3714670Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">High frequency of GATA2 mutations in patients with mild chronic neutropenia evolving to MonoMac syndrome, myelodysplasia, and acute myeloid leukemia</title><author><name sortKey="Pasquet, Marlene" sort="Pasquet, Marlene" uniqKey="Pasquet M" first="Marlène" last="Pasquet">Marlène Pasquet</name><affiliation><nlm:aff id="aff1">Department of Hematology, Centre Hospitalier Universitaire Toulouse Purpan, Toulouse, France;</nlm:aff></affiliation></author><author><name sortKey="Bellanne Chantelot, Christine" sort="Bellanne Chantelot, Christine" uniqKey="Bellanne Chantelot C" first="Christine" last="Bellanné-Chantelot">Christine Bellanné-Chantelot</name><affiliation><nlm:aff id="aff2">Department of Genetics, Hôpital Pitié-Salpétrière, Université Paris VI Pierre et Marie Curie, Paris, France;</nlm:aff></affiliation></author><author><name sortKey="Tavitian, Suzanne" sort="Tavitian, Suzanne" uniqKey="Tavitian S" first="Suzanne" last="Tavitian">Suzanne Tavitian</name><affiliation><nlm:aff id="aff1">Department of Hematology, Centre Hospitalier Universitaire Toulouse Purpan, Toulouse, France;</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">Inserm U1037, Centre de Recherche sur le Cancer de Toulouse, Toulouse, France;</nlm:aff></affiliation></author><author><name sortKey="Prade, Nais" sort="Prade, Nais" uniqKey="Prade N" first="Naïs" last="Prade">Naïs Prade</name><affiliation><nlm:aff id="aff1">Department of Hematology, Centre Hospitalier Universitaire Toulouse Purpan, Toulouse, France;</nlm:aff></affiliation></author><author><name sortKey="Beaupain, Blandine" sort="Beaupain, Blandine" uniqKey="Beaupain B" first="Blandine" last="Beaupain">Blandine Beaupain</name><affiliation><nlm:aff id="aff4">French Severe Chronic Neutropenia Registry, Hôpital Trousseau, Paris, France;</nlm:aff></affiliation><affiliation><nlm:aff id="aff5">Department of Hematology, Hôpital Trousseau, Université Paris VI Pierre et Marie Curie, Paris, France;</nlm:aff></affiliation></author><author><name sortKey="Larochelle, Olivier" sort="Larochelle, Olivier" uniqKey="Larochelle O" first="Olivier" last="Larochelle">Olivier Larochelle</name><affiliation><nlm:aff id="aff1">Department of Hematology, Centre Hospitalier Universitaire Toulouse Purpan, Toulouse, France;</nlm:aff></affiliation><affiliation><nlm:aff id="aff6">Department of Hematology, Centre Hospitalier Universitaire Québec, Pavillon Hôtel Dieu de Québec, Québec, QC;</nlm:aff></affiliation></author><author><name sortKey="Petit, Arnaud" sort="Petit, Arnaud" uniqKey="Petit A" first="Arnaud" last="Petit">Arnaud Petit</name><affiliation><nlm:aff id="aff6">Department of Hematology, Centre Hospitalier Universitaire Québec, Pavillon Hôtel Dieu de Québec, Québec, QC;</nlm:aff></affiliation></author><author><name sortKey="Rohrlich, Pierre" sort="Rohrlich, Pierre" uniqKey="Rohrlich P" first="Pierre" last="Rohrlich">Pierre Rohrlich</name><affiliation><nlm:aff id="aff7">Inserm, Unité Mixte de Recherche 1098, EFS Bourgogne Franche-Comté, Université de Franche-Comté, Besançon, France;</nlm:aff></affiliation></author><author><name sortKey="Ferrand, Christophe" sort="Ferrand, Christophe" uniqKey="Ferrand C" first="Christophe" last="Ferrand">Christophe Ferrand</name><affiliation><nlm:aff id="aff7">Inserm, Unité Mixte de Recherche 1098, EFS Bourgogne Franche-Comté, Université de Franche-Comté, Besançon, France;</nlm:aff></affiliation></author><author><name sortKey="Van Den Neste, Eric" sort="Van Den Neste, Eric" uniqKey="Van Den Neste E" first="Eric" last="Van Den Neste">Eric Van Den Neste</name><affiliation><nlm:aff id="aff8">Department of Hematology, Cliniques Universitaires Saint-Luc and Université Catholique de Louvain, Brussels, Belgium;</nlm:aff></affiliation></author><author><name sortKey="Poirel, Helene A" sort="Poirel, Helene A" uniqKey="Poirel H" first="Hélène A." last="Poirel">Hélène A. Poirel</name><affiliation><nlm:aff id="aff9">Center of Human Genetics, Cliniques Universitaires Saint-Luc and Université Catholique de Louvain, Brussels, Belgium;</nlm:aff></affiliation></author><author><name sortKey="Lamy, Thierry" sort="Lamy, Thierry" uniqKey="Lamy T" first="Thierry" last="Lamy">Thierry Lamy</name><affiliation><nlm:aff id="aff10">Department of Hematology, Centre Hospitalier Universitaire Pontchaillou, Rennes, France;</nlm:aff></affiliation></author><author><name sortKey="Ouachee Chardin, Marie" sort="Ouachee Chardin, Marie" uniqKey="Ouachee Chardin M" first="Marie" last="Ouachée-Chardin">Marie Ouachée-Chardin</name><affiliation><nlm:aff id="aff11">Department of Hematology, Hôpital Robert-Debré, Paris, France;</nlm:aff></affiliation></author><author><name sortKey="Mansat De Mas, Veronique" sort="Mansat De Mas, Veronique" uniqKey="Mansat De Mas V" first="Véronique" last="Mansat-De Mas">Véronique Mansat-De Mas</name><affiliation><nlm:aff id="aff1">Department of Hematology, Centre Hospitalier Universitaire Toulouse Purpan, Toulouse, France;</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">Inserm U1037, Centre de Recherche sur le Cancer de Toulouse, Toulouse, France;</nlm:aff></affiliation><affiliation><nlm:aff wicri:cut="; and" id="aff12">Université Toulouse III Paul-Sabatier, Toulouse, France</nlm:aff></affiliation></author><author><name sortKey="Corre, Jill" sort="Corre, Jill" uniqKey="Corre J" first="Jill" last="Corre">Jill Corre</name><affiliation><nlm:aff id="aff1">Department of Hematology, Centre Hospitalier Universitaire Toulouse Purpan, Toulouse, France;</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">Inserm U1037, Centre de Recherche sur le Cancer de Toulouse, Toulouse, France;</nlm:aff></affiliation><affiliation><nlm:aff wicri:cut="; and" id="aff12">Université Toulouse III Paul-Sabatier, Toulouse, France</nlm:aff></affiliation></author><author><name sortKey="Recher, Christian" sort="Recher, Christian" uniqKey="Recher C" first="Christian" last="Récher">Christian Récher</name><affiliation><nlm:aff id="aff1">Department of Hematology, Centre Hospitalier Universitaire Toulouse Purpan, Toulouse, France;</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">Inserm U1037, Centre de Recherche sur le Cancer de Toulouse, Toulouse, France;</nlm:aff></affiliation><affiliation><nlm:aff wicri:cut="; and" id="aff12">Université Toulouse III Paul-Sabatier, Toulouse, France</nlm:aff></affiliation></author><author><name sortKey="Plat, Genevieve" sort="Plat, Genevieve" uniqKey="Plat G" first="Geneviève" last="Plat">Geneviève Plat</name><affiliation><nlm:aff id="aff1">Department of Hematology, Centre Hospitalier Universitaire Toulouse Purpan, Toulouse, France;</nlm:aff></affiliation></author><author><name sortKey="Bachelerie, Francoise" sort="Bachelerie, Francoise" uniqKey="Bachelerie F" first="Françoise" last="Bachelerie">Françoise Bachelerie</name><affiliation><nlm:aff id="aff13">Inserm Unité Mixte de Recherche S996, Laboratory of Excellence in Research on Medication and Innovative Therapeutics, Université Paris-Sud, Clamart, France</nlm:aff></affiliation></author><author><name sortKey="Donadieu, Jean" sort="Donadieu, Jean" uniqKey="Donadieu J" first="Jean" last="Donadieu">Jean Donadieu</name><affiliation><nlm:aff id="aff4">French Severe Chronic Neutropenia Registry, Hôpital Trousseau, Paris, France;</nlm:aff></affiliation><affiliation><nlm:aff id="aff6">Department of Hematology, Centre Hospitalier Universitaire Québec, Pavillon Hôtel Dieu de Québec, Québec, QC;</nlm:aff></affiliation></author><author><name sortKey="Delabesse, Eric" sort="Delabesse, Eric" uniqKey="Delabesse E" first="Eric" last="Delabesse">Eric Delabesse</name><affiliation><nlm:aff id="aff1">Department of Hematology, Centre Hospitalier Universitaire Toulouse Purpan, Toulouse, France;</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">Inserm U1037, Centre de Recherche sur le Cancer de Toulouse, Toulouse, France;</nlm:aff></affiliation><affiliation><nlm:aff wicri:cut="; and" id="aff12">Université Toulouse III Paul-Sabatier, Toulouse, France</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">23223431</idno><idno type="pmc">3714670</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3714670</idno><idno type="RBID">PMC:3714670</idno><idno type="doi">10.1182/blood-2012-08-447367</idno><date when="2013">2013</date><idno type="wicri:Area/Pmc/Corpus">002C73</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">002C73</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">High frequency of GATA2 mutations in patients with mild chronic neutropenia evolving to MonoMac syndrome, myelodysplasia, and acute myeloid leukemia</title><author><name sortKey="Pasquet, Marlene" sort="Pasquet, Marlene" uniqKey="Pasquet M" first="Marlène" last="Pasquet">Marlène Pasquet</name><affiliation><nlm:aff id="aff1">Department of Hematology, Centre Hospitalier Universitaire Toulouse Purpan, Toulouse, France;</nlm:aff></affiliation></author><author><name sortKey="Bellanne Chantelot, Christine" sort="Bellanne Chantelot, Christine" uniqKey="Bellanne Chantelot C" first="Christine" last="Bellanné-Chantelot">Christine Bellanné-Chantelot</name><affiliation><nlm:aff id="aff2">Department of Genetics, Hôpital Pitié-Salpétrière, Université Paris VI Pierre et Marie Curie, Paris, France;</nlm:aff></affiliation></author><author><name sortKey="Tavitian, Suzanne" sort="Tavitian, Suzanne" uniqKey="Tavitian S" first="Suzanne" last="Tavitian">Suzanne Tavitian</name><affiliation><nlm:aff id="aff1">Department of Hematology, Centre Hospitalier Universitaire Toulouse Purpan, Toulouse, France;</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">Inserm U1037, Centre de Recherche sur le Cancer de Toulouse, Toulouse, France;</nlm:aff></affiliation></author><author><name sortKey="Prade, Nais" sort="Prade, Nais" uniqKey="Prade N" first="Naïs" last="Prade">Naïs Prade</name><affiliation><nlm:aff id="aff1">Department of Hematology, Centre Hospitalier Universitaire Toulouse Purpan, Toulouse, France;</nlm:aff></affiliation></author><author><name sortKey="Beaupain, Blandine" sort="Beaupain, Blandine" uniqKey="Beaupain B" first="Blandine" last="Beaupain">Blandine Beaupain</name><affiliation><nlm:aff id="aff4">French Severe Chronic Neutropenia Registry, Hôpital Trousseau, Paris, France;</nlm:aff></affiliation><affiliation><nlm:aff id="aff5">Department of Hematology, Hôpital Trousseau, Université Paris VI Pierre et Marie Curie, Paris, France;</nlm:aff></affiliation></author><author><name sortKey="Larochelle, Olivier" sort="Larochelle, Olivier" uniqKey="Larochelle O" first="Olivier" last="Larochelle">Olivier Larochelle</name><affiliation><nlm:aff id="aff1">Department of Hematology, Centre Hospitalier Universitaire Toulouse Purpan, Toulouse, France;</nlm:aff></affiliation><affiliation><nlm:aff id="aff6">Department of Hematology, Centre Hospitalier Universitaire Québec, Pavillon Hôtel Dieu de Québec, Québec, QC;</nlm:aff></affiliation></author><author><name sortKey="Petit, Arnaud" sort="Petit, Arnaud" uniqKey="Petit A" first="Arnaud" last="Petit">Arnaud Petit</name><affiliation><nlm:aff id="aff6">Department of Hematology, Centre Hospitalier Universitaire Québec, Pavillon Hôtel Dieu de Québec, Québec, QC;</nlm:aff></affiliation></author><author><name sortKey="Rohrlich, Pierre" sort="Rohrlich, Pierre" uniqKey="Rohrlich P" first="Pierre" last="Rohrlich">Pierre Rohrlich</name><affiliation><nlm:aff id="aff7">Inserm, Unité Mixte de Recherche 1098, EFS Bourgogne Franche-Comté, Université de Franche-Comté, Besançon, France;</nlm:aff></affiliation></author><author><name sortKey="Ferrand, Christophe" sort="Ferrand, Christophe" uniqKey="Ferrand C" first="Christophe" last="Ferrand">Christophe Ferrand</name><affiliation><nlm:aff id="aff7">Inserm, Unité Mixte de Recherche 1098, EFS Bourgogne Franche-Comté, Université de Franche-Comté, Besançon, France;</nlm:aff></affiliation></author><author><name sortKey="Van Den Neste, Eric" sort="Van Den Neste, Eric" uniqKey="Van Den Neste E" first="Eric" last="Van Den Neste">Eric Van Den Neste</name><affiliation><nlm:aff id="aff8">Department of Hematology, Cliniques Universitaires Saint-Luc and Université Catholique de Louvain, Brussels, Belgium;</nlm:aff></affiliation></author><author><name sortKey="Poirel, Helene A" sort="Poirel, Helene A" uniqKey="Poirel H" first="Hélène A." last="Poirel">Hélène A. Poirel</name><affiliation><nlm:aff id="aff9">Center of Human Genetics, Cliniques Universitaires Saint-Luc and Université Catholique de Louvain, Brussels, Belgium;</nlm:aff></affiliation></author><author><name sortKey="Lamy, Thierry" sort="Lamy, Thierry" uniqKey="Lamy T" first="Thierry" last="Lamy">Thierry Lamy</name><affiliation><nlm:aff id="aff10">Department of Hematology, Centre Hospitalier Universitaire Pontchaillou, Rennes, France;</nlm:aff></affiliation></author><author><name sortKey="Ouachee Chardin, Marie" sort="Ouachee Chardin, Marie" uniqKey="Ouachee Chardin M" first="Marie" last="Ouachée-Chardin">Marie Ouachée-Chardin</name><affiliation><nlm:aff id="aff11">Department of Hematology, Hôpital Robert-Debré, Paris, France;</nlm:aff></affiliation></author><author><name sortKey="Mansat De Mas, Veronique" sort="Mansat De Mas, Veronique" uniqKey="Mansat De Mas V" first="Véronique" last="Mansat-De Mas">Véronique Mansat-De Mas</name><affiliation><nlm:aff id="aff1">Department of Hematology, Centre Hospitalier Universitaire Toulouse Purpan, Toulouse, France;</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">Inserm U1037, Centre de Recherche sur le Cancer de Toulouse, Toulouse, France;</nlm:aff></affiliation><affiliation><nlm:aff wicri:cut="; and" id="aff12">Université Toulouse III Paul-Sabatier, Toulouse, France</nlm:aff></affiliation></author><author><name sortKey="Corre, Jill" sort="Corre, Jill" uniqKey="Corre J" first="Jill" last="Corre">Jill Corre</name><affiliation><nlm:aff id="aff1">Department of Hematology, Centre Hospitalier Universitaire Toulouse Purpan, Toulouse, France;</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">Inserm U1037, Centre de Recherche sur le Cancer de Toulouse, Toulouse, France;</nlm:aff></affiliation><affiliation><nlm:aff wicri:cut="; and" id="aff12">Université Toulouse III Paul-Sabatier, Toulouse, France</nlm:aff></affiliation></author><author><name sortKey="Recher, Christian" sort="Recher, Christian" uniqKey="Recher C" first="Christian" last="Récher">Christian Récher</name><affiliation><nlm:aff id="aff1">Department of Hematology, Centre Hospitalier Universitaire Toulouse Purpan, Toulouse, France;</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">Inserm U1037, Centre de Recherche sur le Cancer de Toulouse, Toulouse, France;</nlm:aff></affiliation><affiliation><nlm:aff wicri:cut="; and" id="aff12">Université Toulouse III Paul-Sabatier, Toulouse, France</nlm:aff></affiliation></author><author><name sortKey="Plat, Genevieve" sort="Plat, Genevieve" uniqKey="Plat G" first="Geneviève" last="Plat">Geneviève Plat</name><affiliation><nlm:aff id="aff1">Department of Hematology, Centre Hospitalier Universitaire Toulouse Purpan, Toulouse, France;</nlm:aff></affiliation></author><author><name sortKey="Bachelerie, Francoise" sort="Bachelerie, Francoise" uniqKey="Bachelerie F" first="Françoise" last="Bachelerie">Françoise Bachelerie</name><affiliation><nlm:aff id="aff13">Inserm Unité Mixte de Recherche S996, Laboratory of Excellence in Research on Medication and Innovative Therapeutics, Université Paris-Sud, Clamart, France</nlm:aff></affiliation></author><author><name sortKey="Donadieu, Jean" sort="Donadieu, Jean" uniqKey="Donadieu J" first="Jean" last="Donadieu">Jean Donadieu</name><affiliation><nlm:aff id="aff4">French Severe Chronic Neutropenia Registry, Hôpital Trousseau, Paris, France;</nlm:aff></affiliation><affiliation><nlm:aff id="aff6">Department of Hematology, Centre Hospitalier Universitaire Québec, Pavillon Hôtel Dieu de Québec, Québec, QC;</nlm:aff></affiliation></author><author><name sortKey="Delabesse, Eric" sort="Delabesse, Eric" uniqKey="Delabesse E" first="Eric" last="Delabesse">Eric Delabesse</name><affiliation><nlm:aff id="aff1">Department of Hematology, Centre Hospitalier Universitaire Toulouse Purpan, Toulouse, France;</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">Inserm U1037, Centre de Recherche sur le Cancer de Toulouse, Toulouse, France;</nlm:aff></affiliation><affiliation><nlm:aff wicri:cut="; and" id="aff12">Université Toulouse III Paul-Sabatier, Toulouse, France</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"><title>Key Points</title><p><list list-type="bullet"><list-item><p>Mutations of key transcription factor in myeloid malignancies.</p></list-item></list></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">23223431</article-id><article-id pub-id-type="pmc">3714670</article-id><article-id pub-id-type="publisher-id">2012/447367</article-id><article-id pub-id-type="doi">10.1182/blood-2012-08-447367</article-id><article-categories><subj-group subj-group-type="heading"><subject>Phagocytes, Granulocytes, and Myelopoiesis</subject></subj-group><subj-group subj-group-type="heading"><subject>Myeloid Neoplasia</subject></subj-group><subj-group subj-group-type="heading"><subject>Pediatric Hematology</subject></subj-group></article-categories><title-group><article-title>High frequency of GATA2 mutations in patients with mild chronic neutropenia evolving to MonoMac syndrome, myelodysplasia, and acute myeloid leukemia</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Pasquet</surname><given-names>Marlène</given-names></name><xref ref-type="aff" rid="aff1">1</xref><xref ref-type="author-notes" rid="FN1">*</xref></contrib><contrib contrib-type="author"><name><surname>Bellanné-Chantelot</surname><given-names>Christine</given-names></name><xref ref-type="aff" rid="aff2">2</xref><xref ref-type="author-notes" rid="FN1">*</xref></contrib><contrib contrib-type="author"><name><surname>Tavitian</surname><given-names>Suzanne</given-names></name><xref ref-type="aff" rid="aff1">1</xref><xref ref-type="aff" rid="aff3">3</xref><xref ref-type="author-notes" rid="FN1">*</xref></contrib><contrib contrib-type="author"><name><surname>Prade</surname><given-names>Naïs</given-names></name><xref ref-type="aff" rid="aff1">1</xref></contrib><contrib contrib-type="author"><name><surname>Beaupain</surname><given-names>Blandine</given-names></name><xref ref-type="aff" rid="aff4">4</xref><xref ref-type="aff" rid="aff5">5</xref></contrib><contrib contrib-type="author"><name><surname>LaRochelle</surname><given-names>Olivier</given-names></name><xref ref-type="aff" rid="aff1">1</xref><xref ref-type="aff" rid="aff6">6</xref></contrib><contrib contrib-type="author"><name><surname>Petit</surname><given-names>Arnaud</given-names></name><xref ref-type="aff" rid="aff6">6</xref></contrib><contrib contrib-type="author"><name><surname>Rohrlich</surname><given-names>Pierre</given-names></name><xref ref-type="aff" rid="aff7">7</xref></contrib><contrib contrib-type="author"><name><surname>Ferrand</surname><given-names>Christophe</given-names></name><xref ref-type="aff" rid="aff7">7</xref></contrib><contrib contrib-type="author"><name><surname>Van Den Neste</surname><given-names>Eric</given-names></name><xref ref-type="aff" rid="aff8">8</xref></contrib><contrib contrib-type="author"><name><surname>Poirel</surname><given-names>Hélène A.</given-names></name><xref ref-type="aff" rid="aff9">9</xref></contrib><contrib contrib-type="author"><name><surname>Lamy</surname><given-names>Thierry</given-names></name><xref ref-type="aff" rid="aff10">10</xref></contrib><contrib contrib-type="author"><name><surname>Ouachée-Chardin</surname><given-names>Marie</given-names></name><xref ref-type="aff" rid="aff11">11</xref></contrib><contrib contrib-type="author"><name><surname>Mansat-De Mas</surname><given-names>Véronique</given-names></name><xref ref-type="aff" rid="aff1">1</xref><xref ref-type="aff" rid="aff3">3</xref><xref ref-type="aff" rid="aff12">12</xref></contrib><contrib contrib-type="author"><name><surname>Corre</surname><given-names>Jill</given-names></name><xref ref-type="aff" rid="aff1">1</xref><xref ref-type="aff" rid="aff3">3</xref><xref ref-type="aff" rid="aff12">12</xref></contrib><contrib contrib-type="author"><name><surname>Récher</surname><given-names>Christian</given-names></name><xref ref-type="aff" rid="aff1">1</xref><xref ref-type="aff" rid="aff3">3</xref><xref ref-type="aff" rid="aff12">12</xref></contrib><contrib contrib-type="author"><name><surname>Plat</surname><given-names>Geneviève</given-names></name><xref ref-type="aff" rid="aff1">1</xref></contrib><contrib contrib-type="author"><name><surname>Bachelerie</surname><given-names>Françoise</given-names></name><xref ref-type="aff" rid="aff13">13</xref></contrib><contrib contrib-type="author"><name><surname>Donadieu</surname><given-names>Jean</given-names></name><xref ref-type="aff" rid="aff4">4</xref><xref ref-type="aff" rid="aff6">6</xref><xref ref-type="author-notes" rid="FN1">*</xref></contrib><contrib contrib-type="author" corresp="yes"><name><surname>Delabesse</surname><given-names>Eric</given-names></name><xref ref-type="aff" rid="aff1">1</xref><xref ref-type="aff" rid="aff3">3</xref><xref ref-type="aff" rid="aff12">12</xref><xref ref-type="author-notes" rid="FN1">*</xref></contrib><aff id="aff1"><label>1</label>Department of Hematology, Centre Hospitalier Universitaire Toulouse Purpan, Toulouse, France;</aff><aff id="aff2"><label>2</label>Department of Genetics, Hôpital Pitié-Salpétrière, Université Paris VI Pierre et Marie Curie, Paris, France;</aff><aff id="aff3"><label>3</label>Inserm U1037, Centre de Recherche sur le Cancer de Toulouse, Toulouse, France;</aff><aff id="aff4"><label>4</label>French Severe Chronic Neutropenia Registry, Hôpital Trousseau, Paris, France;</aff><aff id="aff5"><label>5</label>Department of Hematology, Hôpital Trousseau, Université Paris VI Pierre et Marie Curie, Paris, France;</aff><aff id="aff6"><label>6</label>Department of Hematology, Centre Hospitalier Universitaire Québec, Pavillon Hôtel Dieu de Québec, Québec, QC;</aff><aff id="aff7"><label>7</label>Inserm, Unité Mixte de Recherche 1098, EFS Bourgogne Franche-Comté, Université de Franche-Comté, Besançon, France;</aff><aff id="aff8"><label>8</label>Department of Hematology, Cliniques Universitaires Saint-Luc and Université Catholique de Louvain, Brussels, Belgium;</aff><aff id="aff9"><label>9</label>Center of Human Genetics, Cliniques Universitaires Saint-Luc and Université Catholique de Louvain, Brussels, Belgium;</aff><aff id="aff10"><label>10</label>Department of Hematology, Centre Hospitalier Universitaire Pontchaillou, Rennes, France;</aff><aff id="aff11"><label>11</label>Department of Hematology, Hôpital Robert-Debré, Paris, France;</aff><aff id="aff12"><label>12</label>Université Toulouse III Paul-Sabatier, Toulouse, France; and</aff><aff id="aff13"><label>13</label>Inserm Unité Mixte de Recherche S996, Laboratory of Excellence in Research on Medication and Innovative Therapeutics, Université Paris-Sud, Clamart, France</aff></contrib-group><author-notes><fn fn-type="equal" id="FN1"><label>*</label><p>M.P., C.B.-C., S.T., J.D., and E.D. contributed equally to this work.</p></fn></author-notes><pub-date pub-type="ppub"><day>31</day><month>1</month><year>2013</year></pub-date><pub-date pub-type="epreprint"><day>6</day><month>12</month><year>2012</year></pub-date><pub-date pub-type="pmc-release"><day>31</day><month>1</month><year>2014</year></pub-date><pmc-comment> PMC Release delay is 12 months and
0 days and was based on the
<volume>121</volume><issue>5</issue><fpage>822</fpage><lpage>829</lpage><history><date date-type="received"><day>1</day><month>8</month><year>2012</year></date><date date-type="accepted"><day>18</day><month>11</month><year>2012</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="822.pdf"></self-uri><abstract abstract-type="executive-summary"><title>Key Points</title><p><list list-type="bullet"><list-item><p>Mutations of key transcription factor in myeloid malignancies.</p></list-item></list></p></abstract><abstract><p>Congenital neutropenia is a group of genetic disorders that involve chronic neutropenia and susceptibility to infections. These neutropenias may be isolated or associated with immunologic defects or extra-hematopoietic manifestations. Complications may occur as infectious diseases, but also less frequently as myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML). Recently, the transcription factor GATA2 has been identified as a new predisposing gene for familial AML/MDS. In the present study, we describe the initial identification by exome sequencing of a GATA2 R396Q mutation in a family with a history of chronic mild neutropenia evolving to AML and/or MDS. The subsequent analysis of the French Severe Chronic Neutropenia Registry allowed the identification of 6 additional pedigrees and 10 patients with 6 different and not previously reported <italic>GATA2</italic> mutations (R204X, E224X, R330X, A372T, M388V, and a complete deletion of the <italic>GATA2</italic> locus). The frequent evolution to MDS and AML in these patients reveals the importance of screening <italic>GATA2</italic> in chronic neutropenia associated with monocytopenia because of the frequent hematopoietic transformation, variable clinical expression at onset, and the need for aggressive therapy in patients with poor clinical outcome.</p></abstract></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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