Germ-line GATA2 p.THR354MET mutation in familial myelodysplastic syndrome with acquired monosomy 7 and ASXL1 mutation demonstrating rapid onset and poor survival
Identifieur interne : 004A04 ( Ncbi/Merge ); précédent : 004A03; suivant : 004A05Germ-line GATA2 p.THR354MET mutation in familial myelodysplastic syndrome with acquired monosomy 7 and ASXL1 mutation demonstrating rapid onset and poor survival
Auteurs : Csaba Bödör [Royaume-Uni, Hongrie] ; Aline Renneville [France] ; Matthew Smith [Royaume-Uni] ; Aurélie Charazac [Royaume-Uni] ; Sameena Iqbal [Royaume-Uni] ; Pascaline Étancelin [France] ; Jamie Cavenagh [Royaume-Uni] ; Michael J. Barnett [Canada] ; Karolina Kramarzová [République tchèque] ; Biju Krishnan [Royaume-Uni] ; András Matolcsy [Hongrie] ; Claude Preudhomme [France] ; Jude Fitzgibbon [Royaume-Uni] ; Carolyn Owen [Canada]Source :
- Haematologica [ 0390-6078 ] ; 2012.
Abstract
While most myelodysplastic syndrome/acute myeloid leukemia cases are sporadic, rare familial cases occur and provide some insight into leukemogenesis. The most clearly defined familial cases result from inherited mutations in
Url:
DOI: 10.3324/haematol.2011.054361
PubMed: 22271902
PubMed Central: 3366655
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PMC:3366655Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Germ-line <italic>GATA2</italic>
p.THR354MET mutation in familial myelodysplastic syndrome with acquired monosomy 7 and <italic>ASXL1</italic>
mutation demonstrating rapid onset and poor survival</title>
<author><name sortKey="Bodor, Csaba" sort="Bodor, Csaba" uniqKey="Bodor C" first="Csaba" last="Bödör">Csaba Bödör</name>
<affiliation wicri:level="4"><nlm:aff id="af1-0970890">Centre of Haemato-Oncology, Barts Cancer Institute, Queen Mary University of London, UK</nlm:aff>
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<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
<orgName type="university">Université de Londres</orgName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="af2-0970890">1<sup>st</sup>
Department of Pathology and Experimental Cancer Research, Semmelweis University, Budapest, Hungary</nlm:aff>
<country xml:lang="fr">Hongrie</country>
<wicri:regionArea> Department of Pathology and Experimental Cancer Research, Semmelweis University, Budapest</wicri:regionArea>
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</placeName>
</affiliation>
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<author><name sortKey="Renneville, Aline" sort="Renneville, Aline" uniqKey="Renneville A" first="Aline" last="Renneville">Aline Renneville</name>
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<author><name sortKey="Smith, Matthew" sort="Smith, Matthew" uniqKey="Smith M" first="Matthew" last="Smith">Matthew Smith</name>
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<author><name sortKey="Charazac, Aurelie" sort="Charazac, Aurelie" uniqKey="Charazac A" first="Aurélie" last="Charazac">Aurélie Charazac</name>
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<author><name sortKey="Iqbal, Sameena" sort="Iqbal, Sameena" uniqKey="Iqbal S" first="Sameena" last="Iqbal">Sameena Iqbal</name>
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<author><name sortKey="Etancelin, Pascaline" sort="Etancelin, Pascaline" uniqKey="Etancelin P" first="Pascaline" last="Étancelin">Pascaline Étancelin</name>
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<author><name sortKey="Cavenagh, Jamie" sort="Cavenagh, Jamie" uniqKey="Cavenagh J" first="Jamie" last="Cavenagh">Jamie Cavenagh</name>
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<country xml:lang="fr">Royaume-Uni</country>
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<author><name sortKey="Barnett, Michael J" sort="Barnett, Michael J" uniqKey="Barnett M" first="Michael J" last="Barnett">Michael J. Barnett</name>
<affiliation wicri:level="1"><nlm:aff id="af4-0970890">Leukemia/BMT Program of British Columbia, British Columbia Cancer Agency and Vancouver General Hospital, and University of British Columbia, Vancouver, Canada</nlm:aff>
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</author>
<author><name sortKey="Kramarzova, Karolina" sort="Kramarzova, Karolina" uniqKey="Kramarzova K" first="Karolina" last="Kramarzová">Karolina Kramarzová</name>
<affiliation wicri:level="3"><nlm:aff id="af5-0970890">Department of Pediatric Hematology and Oncology, 2<sup>nd</sup>
School of Medicine, Charles University, Prague, Czech Republic</nlm:aff>
<country xml:lang="fr">République tchèque</country>
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<author><name sortKey="Krishnan, Biju" sort="Krishnan, Biju" uniqKey="Krishnan B" first="Biju" last="Krishnan">Biju Krishnan</name>
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<author><name sortKey="Matolcsy, Andras" sort="Matolcsy, Andras" uniqKey="Matolcsy A" first="András" last="Matolcsy">András Matolcsy</name>
<affiliation wicri:level="3"><nlm:aff id="af2-0970890">1<sup>st</sup>
Department of Pathology and Experimental Cancer Research, Semmelweis University, Budapest, Hungary</nlm:aff>
<country xml:lang="fr">Hongrie</country>
<wicri:regionArea> Department of Pathology and Experimental Cancer Research, Semmelweis University, Budapest</wicri:regionArea>
<placeName><settlement type="city">Budapest</settlement>
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</placeName>
</affiliation>
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<author><name sortKey="Preudhomme, Claude" sort="Preudhomme, Claude" uniqKey="Preudhomme C" first="Claude" last="Preudhomme">Claude Preudhomme</name>
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</affiliation>
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<author><name sortKey="Fitzgibbon, Jude" sort="Fitzgibbon, Jude" uniqKey="Fitzgibbon J" first="Jude" last="Fitzgibbon">Jude Fitzgibbon</name>
<affiliation wicri:level="4"><nlm:aff id="af1-0970890">Centre of Haemato-Oncology, Barts Cancer Institute, Queen Mary University of London, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Centre of Haemato-Oncology, Barts Cancer Institute, Queen Mary University of London</wicri:regionArea>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
<orgName type="university">Université de Londres</orgName>
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<author><name sortKey="Owen, Carolyn" sort="Owen, Carolyn" uniqKey="Owen C" first="Carolyn" last="Owen">Carolyn Owen</name>
<affiliation wicri:level="4"><nlm:aff id="af7-0970890">Division of Hematology & Hematological Malignancies, University of Calgary, Calgary, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Division of Hematology & Hematological Malignancies, University of Calgary, Calgary</wicri:regionArea>
<orgName type="university">Université de Calgary</orgName>
<placeName><settlement type="city">Calgary</settlement>
<region type="state">Alberta</region>
</placeName>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Germ-line <italic>GATA2</italic>
p.THR354MET mutation in familial myelodysplastic syndrome with acquired monosomy 7 and <italic>ASXL1</italic>
mutation demonstrating rapid onset and poor survival</title>
<author><name sortKey="Bodor, Csaba" sort="Bodor, Csaba" uniqKey="Bodor C" first="Csaba" last="Bödör">Csaba Bödör</name>
<affiliation wicri:level="4"><nlm:aff id="af1-0970890">Centre of Haemato-Oncology, Barts Cancer Institute, Queen Mary University of London, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Centre of Haemato-Oncology, Barts Cancer Institute, Queen Mary University of London</wicri:regionArea>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
<orgName type="university">Université de Londres</orgName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="af2-0970890">1<sup>st</sup>
Department of Pathology and Experimental Cancer Research, Semmelweis University, Budapest, Hungary</nlm:aff>
<country xml:lang="fr">Hongrie</country>
<wicri:regionArea> Department of Pathology and Experimental Cancer Research, Semmelweis University, Budapest</wicri:regionArea>
<placeName><settlement type="city">Budapest</settlement>
<region nuts="2">Hongrie centrale</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Renneville, Aline" sort="Renneville, Aline" uniqKey="Renneville A" first="Aline" last="Renneville">Aline Renneville</name>
<affiliation wicri:level="1"><nlm:aff id="af3-0970890">Centre de Biologie-Pathologie, Laboratoire d’Hématologie, CHRU de Lille, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Centre de Biologie-Pathologie, Laboratoire d’Hématologie, CHRU de Lille</wicri:regionArea>
<wicri:noRegion>CHRU de Lille</wicri:noRegion>
<wicri:noRegion>CHRU de Lille</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Smith, Matthew" sort="Smith, Matthew" uniqKey="Smith M" first="Matthew" last="Smith">Matthew Smith</name>
<affiliation wicri:level="4"><nlm:aff id="af1-0970890">Centre of Haemato-Oncology, Barts Cancer Institute, Queen Mary University of London, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Centre of Haemato-Oncology, Barts Cancer Institute, Queen Mary University of London</wicri:regionArea>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
<orgName type="university">Université de Londres</orgName>
</affiliation>
</author>
<author><name sortKey="Charazac, Aurelie" sort="Charazac, Aurelie" uniqKey="Charazac A" first="Aurélie" last="Charazac">Aurélie Charazac</name>
<affiliation wicri:level="4"><nlm:aff id="af1-0970890">Centre of Haemato-Oncology, Barts Cancer Institute, Queen Mary University of London, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Centre of Haemato-Oncology, Barts Cancer Institute, Queen Mary University of London</wicri:regionArea>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
<orgName type="university">Université de Londres</orgName>
</affiliation>
</author>
<author><name sortKey="Iqbal, Sameena" sort="Iqbal, Sameena" uniqKey="Iqbal S" first="Sameena" last="Iqbal">Sameena Iqbal</name>
<affiliation wicri:level="4"><nlm:aff id="af1-0970890">Centre of Haemato-Oncology, Barts Cancer Institute, Queen Mary University of London, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Centre of Haemato-Oncology, Barts Cancer Institute, Queen Mary University of London</wicri:regionArea>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
<orgName type="university">Université de Londres</orgName>
</affiliation>
</author>
<author><name sortKey="Etancelin, Pascaline" sort="Etancelin, Pascaline" uniqKey="Etancelin P" first="Pascaline" last="Étancelin">Pascaline Étancelin</name>
<affiliation wicri:level="1"><nlm:aff id="af3-0970890">Centre de Biologie-Pathologie, Laboratoire d’Hématologie, CHRU de Lille, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Centre de Biologie-Pathologie, Laboratoire d’Hématologie, CHRU de Lille</wicri:regionArea>
<wicri:noRegion>CHRU de Lille</wicri:noRegion>
<wicri:noRegion>CHRU de Lille</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Cavenagh, Jamie" sort="Cavenagh, Jamie" uniqKey="Cavenagh J" first="Jamie" last="Cavenagh">Jamie Cavenagh</name>
<affiliation wicri:level="4"><nlm:aff id="af1-0970890">Centre of Haemato-Oncology, Barts Cancer Institute, Queen Mary University of London, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Centre of Haemato-Oncology, Barts Cancer Institute, Queen Mary University of London</wicri:regionArea>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
<orgName type="university">Université de Londres</orgName>
</affiliation>
</author>
<author><name sortKey="Barnett, Michael J" sort="Barnett, Michael J" uniqKey="Barnett M" first="Michael J" last="Barnett">Michael J. Barnett</name>
<affiliation wicri:level="1"><nlm:aff id="af4-0970890">Leukemia/BMT Program of British Columbia, British Columbia Cancer Agency and Vancouver General Hospital, and University of British Columbia, Vancouver, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Leukemia/BMT Program of British Columbia, British Columbia Cancer Agency and Vancouver General Hospital, and University of British Columbia, Vancouver</wicri:regionArea>
<wicri:noRegion>Vancouver</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Kramarzova, Karolina" sort="Kramarzova, Karolina" uniqKey="Kramarzova K" first="Karolina" last="Kramarzová">Karolina Kramarzová</name>
<affiliation wicri:level="3"><nlm:aff id="af5-0970890">Department of Pediatric Hematology and Oncology, 2<sup>nd</sup>
School of Medicine, Charles University, Prague, Czech Republic</nlm:aff>
<country xml:lang="fr">République tchèque</country>
<wicri:regionArea> School of Medicine, Charles University, Prague</wicri:regionArea>
<placeName><settlement type="city">Prague</settlement>
<region type="région" nuts="2">Bohême centrale</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Krishnan, Biju" sort="Krishnan, Biju" uniqKey="Krishnan B" first="Biju" last="Krishnan">Biju Krishnan</name>
<affiliation wicri:level="1"><nlm:aff id="af6-0970890">Department of Haematology, Queens Hospital, Essex, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Department of Haematology, Queens Hospital, Essex</wicri:regionArea>
<wicri:noRegion>Essex</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Matolcsy, Andras" sort="Matolcsy, Andras" uniqKey="Matolcsy A" first="András" last="Matolcsy">András Matolcsy</name>
<affiliation wicri:level="3"><nlm:aff id="af2-0970890">1<sup>st</sup>
Department of Pathology and Experimental Cancer Research, Semmelweis University, Budapest, Hungary</nlm:aff>
<country xml:lang="fr">Hongrie</country>
<wicri:regionArea> Department of Pathology and Experimental Cancer Research, Semmelweis University, Budapest</wicri:regionArea>
<placeName><settlement type="city">Budapest</settlement>
<region nuts="2">Hongrie centrale</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Preudhomme, Claude" sort="Preudhomme, Claude" uniqKey="Preudhomme C" first="Claude" last="Preudhomme">Claude Preudhomme</name>
<affiliation wicri:level="1"><nlm:aff id="af3-0970890">Centre de Biologie-Pathologie, Laboratoire d’Hématologie, CHRU de Lille, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Centre de Biologie-Pathologie, Laboratoire d’Hématologie, CHRU de Lille</wicri:regionArea>
<wicri:noRegion>CHRU de Lille</wicri:noRegion>
<wicri:noRegion>CHRU de Lille</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Fitzgibbon, Jude" sort="Fitzgibbon, Jude" uniqKey="Fitzgibbon J" first="Jude" last="Fitzgibbon">Jude Fitzgibbon</name>
<affiliation wicri:level="4"><nlm:aff id="af1-0970890">Centre of Haemato-Oncology, Barts Cancer Institute, Queen Mary University of London, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Centre of Haemato-Oncology, Barts Cancer Institute, Queen Mary University of London</wicri:regionArea>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
<orgName type="university">Université de Londres</orgName>
</affiliation>
</author>
<author><name sortKey="Owen, Carolyn" sort="Owen, Carolyn" uniqKey="Owen C" first="Carolyn" last="Owen">Carolyn Owen</name>
<affiliation wicri:level="4"><nlm:aff id="af7-0970890">Division of Hematology & Hematological Malignancies, University of Calgary, Calgary, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Division of Hematology & Hematological Malignancies, University of Calgary, Calgary</wicri:regionArea>
<orgName type="university">Université de Calgary</orgName>
<placeName><settlement type="city">Calgary</settlement>
<region type="state">Alberta</region>
</placeName>
</affiliation>
</author>
</analytic>
<series><title level="j">Haematologica</title>
<idno type="ISSN">0390-6078</idno>
<idno type="eISSN">1592-8721</idno>
<imprint><date when="2012">2012</date>
</imprint>
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<front><div type="abstract" xml:lang="en"><p>While most myelodysplastic syndrome/acute myeloid leukemia cases are sporadic, rare familial cases occur and provide some insight into leukemogenesis. The most clearly defined familial cases result from inherited mutations in <italic>RUNX1</italic>
or <italic>CEBPA</italic>
. Recently, novel germline mutations in <italic>GATA2</italic>
have been reported. We, therefore, investigated individuals from families with one or more first-degree relatives with myelodysplastic syndrome/acute myeloid leukemia with wild-type <italic>RUNX1</italic>
and <italic>CEBPA</italic>
, for <italic>GATA2</italic>
mutations. Screening for other recurrent mutations was also performed. A <italic>GATA2</italic>
p.Thr354Met mutation was observed in a pedigree in which 2 first-degree cousins developed high-risk myelodys-plastic syndrome with monosomy 7. They were also observed to have acquired identical somatic <italic>ASXL1</italic>
mutations and both died despite stem cell transplantation. These findings confirm that germline <italic>GATA2</italic>
mutations predispose to familial myelodysplastic syndrome/acute myeloid leukemia, and that monosomy 7 and <italic>ASXL1</italic>
mutations may be recurrent secondary genetic abnormalities triggering overt malignancy in these families.</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">Haematologica</journal-id>
<journal-id journal-id-type="iso-abbrev">Haematologica</journal-id>
<journal-id journal-id-type="hwp">haematol</journal-id>
<journal-id journal-id-type="publisher-id">Haematologica</journal-id>
<journal-title-group><journal-title>Haematologica</journal-title>
</journal-title-group>
<issn pub-type="ppub">0390-6078</issn>
<issn pub-type="epub">1592-8721</issn>
<publisher><publisher-name>Ferrata Storti Foundation</publisher-name>
</publisher>
</journal-meta>
<article-meta><article-id pub-id-type="pmid">22271902</article-id>
<article-id pub-id-type="pmc">3366655</article-id>
<article-id pub-id-type="doi">10.3324/haematol.2011.054361</article-id>
<article-id pub-id-type="publisher-id">0970890</article-id>
<article-categories><subj-group subj-group-type="heading"><subject>Original Articles and Brief Reports</subject>
<subj-group><subject>Myelodysplastic Syndromes</subject>
</subj-group>
</subj-group>
</article-categories>
<title-group><article-title>Germ-line <italic>GATA2</italic>
p.THR354MET mutation in familial myelodysplastic syndrome with acquired monosomy 7 and <italic>ASXL1</italic>
mutation demonstrating rapid onset and poor survival</article-title>
</title-group>
<contrib-group><contrib contrib-type="author"><name><surname>Bödör</surname>
<given-names>Csaba</given-names>
</name>
<xref ref-type="aff" rid="af1-0970890">1</xref>
<xref ref-type="aff" rid="af2-0970890">2</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Renneville</surname>
<given-names>Aline</given-names>
</name>
<xref ref-type="aff" rid="af3-0970890">3</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Smith</surname>
<given-names>Matthew</given-names>
</name>
<xref ref-type="aff" rid="af1-0970890">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Charazac</surname>
<given-names>Aurélie</given-names>
</name>
<xref ref-type="aff" rid="af1-0970890">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Iqbal</surname>
<given-names>Sameena</given-names>
</name>
<xref ref-type="aff" rid="af1-0970890">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Étancelin</surname>
<given-names>Pascaline</given-names>
</name>
<xref ref-type="aff" rid="af3-0970890">3</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Cavenagh</surname>
<given-names>Jamie</given-names>
</name>
<xref ref-type="aff" rid="af1-0970890">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Barnett</surname>
<given-names>Michael J</given-names>
</name>
<xref ref-type="aff" rid="af4-0970890">4</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Kramarzová</surname>
<given-names>Karolina</given-names>
</name>
<xref ref-type="aff" rid="af5-0970890">5</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Krishnan</surname>
<given-names>Biju</given-names>
</name>
<xref ref-type="aff" rid="af6-0970890">6</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Matolcsy</surname>
<given-names>András</given-names>
</name>
<xref ref-type="aff" rid="af2-0970890">2</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Preudhomme</surname>
<given-names>Claude</given-names>
</name>
<xref ref-type="aff" rid="af3-0970890">3</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Fitzgibbon</surname>
<given-names>Jude</given-names>
</name>
<xref ref-type="aff" rid="af1-0970890">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Owen</surname>
<given-names>Carolyn</given-names>
</name>
<xref ref-type="aff" rid="af7-0970890">7</xref>
<xref ref-type="corresp" rid="c1-0970890"></xref>
</contrib>
</contrib-group>
<aff id="af1-0970890"><label>1</label>
Centre of Haemato-Oncology, Barts Cancer Institute, Queen Mary University of London, UK</aff>
<aff id="af2-0970890"><label>2</label>
1<sup>st</sup>
Department of Pathology and Experimental Cancer Research, Semmelweis University, Budapest, Hungary</aff>
<aff id="af3-0970890"><label>3</label>
Centre de Biologie-Pathologie, Laboratoire d’Hématologie, CHRU de Lille, France</aff>
<aff id="af4-0970890"><label>4</label>
Leukemia/BMT Program of British Columbia, British Columbia Cancer Agency and Vancouver General Hospital, and University of British Columbia, Vancouver, Canada</aff>
<aff id="af5-0970890"><label>5</label>
Department of Pediatric Hematology and Oncology, 2<sup>nd</sup>
School of Medicine, Charles University, Prague, Czech Republic</aff>
<aff id="af6-0970890"><label>6</label>
Department of Haematology, Queens Hospital, Essex, UK</aff>
<aff id="af7-0970890"><label>7</label>
Division of Hematology & Hematological Malignancies, University of Calgary, Calgary, Canada</aff>
<author-notes><corresp id="c1-0970890">Correspondence: Carolyn Owen, 603 South Tower, Foothills Medical Centre, 1403-29th St NW, Calgary, AB, Canada, T2N 2T9. Phone: international +1.403.9443265. Fax: international +1.403.9448352. E-mail: <email>carolyn.owen@albertahealthservices.ca</email>
or Jude Fitzgibbon, Centre of Haemato-Oncology, Barts Cancer Institute, Charterhouse Square, London, EC1M 6BQ, UK. Phone: international +44.20.78823804. Fax: international +44.20.7882 3891. E-mail: <email>j.fitzgibbon@qmul.ac.uk</email>
</corresp>
</author-notes>
<pub-date pub-type="ppub"><month>6</month>
<year>2012</year>
</pub-date>
<volume>97</volume>
<issue>6</issue>
<fpage>890</fpage>
<lpage>894</lpage>
<history><date date-type="received"><day>01</day>
<month>9</month>
<year>2011</year>
</date>
<date date-type="rev-recd"><day>19</day>
<month>12</month>
<year>2011</year>
</date>
<date date-type="accepted"><day>23</day>
<month>12</month>
<year>2011</year>
</date>
</history>
<permissions><copyright-statement>Copyright© Ferrata Storti Foundation</copyright-statement>
<copyright-year>2012</copyright-year>
</permissions>
<self-uri content-type="pdf" xlink:type="simple" xlink:href="97890.pdf"></self-uri>
<abstract><p>While most myelodysplastic syndrome/acute myeloid leukemia cases are sporadic, rare familial cases occur and provide some insight into leukemogenesis. The most clearly defined familial cases result from inherited mutations in <italic>RUNX1</italic>
or <italic>CEBPA</italic>
. Recently, novel germline mutations in <italic>GATA2</italic>
have been reported. We, therefore, investigated individuals from families with one or more first-degree relatives with myelodysplastic syndrome/acute myeloid leukemia with wild-type <italic>RUNX1</italic>
and <italic>CEBPA</italic>
, for <italic>GATA2</italic>
mutations. Screening for other recurrent mutations was also performed. A <italic>GATA2</italic>
p.Thr354Met mutation was observed in a pedigree in which 2 first-degree cousins developed high-risk myelodys-plastic syndrome with monosomy 7. They were also observed to have acquired identical somatic <italic>ASXL1</italic>
mutations and both died despite stem cell transplantation. These findings confirm that germline <italic>GATA2</italic>
mutations predispose to familial myelodysplastic syndrome/acute myeloid leukemia, and that monosomy 7 and <italic>ASXL1</italic>
mutations may be recurrent secondary genetic abnormalities triggering overt malignancy in these families.</p>
</abstract>
<kwd-group><kwd>familial</kwd>
<kwd>myelodysplastic syndromes</kwd>
<kwd>GATA2</kwd>
<kwd>monosomy 7</kwd>
</kwd-group>
</article-meta>
</front>
</pmc>
<affiliations><list><country><li>Canada</li>
<li>France</li>
<li>Hongrie</li>
<li>Royaume-Uni</li>
<li>République tchèque</li>
</country>
<region><li>Alberta</li>
<li>Angleterre</li>
<li>Bohême centrale</li>
<li>Grand Londres</li>
<li>Hongrie centrale</li>
</region>
<settlement><li>Budapest</li>
<li>Calgary</li>
<li>Londres</li>
<li>Prague</li>
</settlement>
<orgName><li>Université de Calgary</li>
<li>Université de Londres</li>
</orgName>
</list>
<tree><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Bodor, Csaba" sort="Bodor, Csaba" uniqKey="Bodor C" first="Csaba" last="Bödör">Csaba Bödör</name>
</region>
<name sortKey="Cavenagh, Jamie" sort="Cavenagh, Jamie" uniqKey="Cavenagh J" first="Jamie" last="Cavenagh">Jamie Cavenagh</name>
<name sortKey="Charazac, Aurelie" sort="Charazac, Aurelie" uniqKey="Charazac A" first="Aurélie" last="Charazac">Aurélie Charazac</name>
<name sortKey="Fitzgibbon, Jude" sort="Fitzgibbon, Jude" uniqKey="Fitzgibbon J" first="Jude" last="Fitzgibbon">Jude Fitzgibbon</name>
<name sortKey="Iqbal, Sameena" sort="Iqbal, Sameena" uniqKey="Iqbal S" first="Sameena" last="Iqbal">Sameena Iqbal</name>
<name sortKey="Krishnan, Biju" sort="Krishnan, Biju" uniqKey="Krishnan B" first="Biju" last="Krishnan">Biju Krishnan</name>
<name sortKey="Smith, Matthew" sort="Smith, Matthew" uniqKey="Smith M" first="Matthew" last="Smith">Matthew Smith</name>
</country>
<country name="Hongrie"><region name="Hongrie centrale"><name sortKey="Bodor, Csaba" sort="Bodor, Csaba" uniqKey="Bodor C" first="Csaba" last="Bödör">Csaba Bödör</name>
</region>
<name sortKey="Matolcsy, Andras" sort="Matolcsy, Andras" uniqKey="Matolcsy A" first="András" last="Matolcsy">András Matolcsy</name>
</country>
<country name="France"><noRegion><name sortKey="Renneville, Aline" sort="Renneville, Aline" uniqKey="Renneville A" first="Aline" last="Renneville">Aline Renneville</name>
</noRegion>
<name sortKey="Etancelin, Pascaline" sort="Etancelin, Pascaline" uniqKey="Etancelin P" first="Pascaline" last="Étancelin">Pascaline Étancelin</name>
<name sortKey="Preudhomme, Claude" sort="Preudhomme, Claude" uniqKey="Preudhomme C" first="Claude" last="Preudhomme">Claude Preudhomme</name>
</country>
<country name="Canada"><noRegion><name sortKey="Barnett, Michael J" sort="Barnett, Michael J" uniqKey="Barnett M" first="Michael J" last="Barnett">Michael J. Barnett</name>
</noRegion>
<name sortKey="Owen, Carolyn" sort="Owen, Carolyn" uniqKey="Owen C" first="Carolyn" last="Owen">Carolyn Owen</name>
</country>
<country name="République tchèque"><region name="Bohême centrale"><name sortKey="Kramarzova, Karolina" sort="Kramarzova, Karolina" uniqKey="Kramarzova K" first="Karolina" last="Kramarzová">Karolina Kramarzová</name>
</region>
</country>
</tree>
</affiliations>
</record>
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