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 : 004279 ( Main/Exploration ); précédent : 004278; suivant : 004280Germ-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
Affiliations:
- Canada, France, Hongrie, Royaume-Uni, République tchèque
- Alberta, Angleterre, Bohême centrale, Grand Londres, Hongrie centrale
- Budapest, Calgary, Londres, Prague
- Université de Calgary, Université de Londres
Links toward previous steps (curation, corpus...)
- to stream Pmc, to step Corpus: 002E24
- to stream Pmc, to step Curation: 002E23
- to stream Pmc, to step Checkpoint: 002987
- to stream Ncbi, to step Merge: 004A04
- to stream Ncbi, to step Curation: 004A04
- to stream Ncbi, to step Checkpoint: 004A04
- to stream Main, to step Merge: 004296
- to stream Main, to step Curation: 004279
Le document en format XML
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p.THR354MET mutation in familial myelodysplastic syndrome with acquired monosomy 7 and <italic>ASXL1</italic>
mutation demonstrating rapid onset and poor survival</title>
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Department of Pathology and Experimental Cancer Research, Semmelweis University, Budapest, Hungary</nlm:aff>
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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>
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Department of Pathology and Experimental Cancer Research, Semmelweis University, Budapest, Hungary</nlm:aff>
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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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<author><name sortKey="Barnett, Michael J" sort="Barnett, Michael J" uniqKey="Barnett M" first="Michael J" last="Barnett">Michael J. Barnett</name>
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<author><name sortKey="Kramarzova, Karolina" sort="Kramarzova, Karolina" uniqKey="Kramarzova K" first="Karolina" last="Kramarzová">Karolina Kramarzová</name>
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School of Medicine, Charles University, Prague, Czech Republic</nlm:aff>
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<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>
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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>
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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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<country xml:lang="fr">France</country>
<wicri:regionArea>Centre de Biologie-Pathologie, Laboratoire d’Hématologie, CHRU de Lille</wicri:regionArea>
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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>
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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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<series><title level="j">Haematologica</title>
<idno type="ISSN">0390-6078</idno>
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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>
<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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