LymphedemaV1, Main, Exploration, bibRecord, 002D92

Acquired ASXL1 mutations are common in patients with inherited GATA2 mutations and correlate with myeloid transformation

Identifieur interne : 002D92 ( Main/Exploration ); précédent : 002D91; suivant : 002D93

Acquired ASXL1 mutations are common in patients with inherited GATA2 mutations and correlate with myeloid transformation

Auteurs : Robert R. West [États-Unis] ; Amy P. Hsu [États-Unis] ; Steven M. Holland [États-Unis] ; Jennifer Cuellar-Rodriguez [États-Unis] ; Dennis D. Hickstein [États-Unis]

Source :

Haematologica [ 0390-6078 ] ; 2014.

RBID : PMC:3912957

Abstract

Inherited or sporadic heterozygous mutations in the transcription factor GATA2 lead to a clinical syndrome characterized by non-tuberculous mycobacterial and other opportunistic infections, a severe deficiency in monocytes, B cells and natural killer cells, and progression from a hypocellular myelodysplastic syndrome to myeloid leukemias. To identify acquired somatic mutations associated with myeloid transformation in patients with GATA2 mutations, we sequenced the region of the ASXL1 gene previously associated with transformation from myelodysplasia to myeloid leukemia. Somatic, heterozygous ASXL1 mutations were identified in 14/48 (29%) of patients with GATA2 deficiency, including four out of five patients who developed a proliferative chronic myelomonocytic leukemia. Although patients with GATA2 mutations had a similarly high incidence of myeloid transformation when compared to previously described patients with ASXL1 mutations, GATA2 deficiency patients with acquired ASXL1 mutation were considerably younger, almost exclusively female, and had a high incidence of transformation to a proliferative chronic myelomonocytic leukemia. These patients may benefit from allogeneic hematopoietic stem cell transplantation before the development of acute myeloid leukemia or chronic myelomonocytic leukemia. (ClinicalTrials.gov identifier NCT00018044, NCT00404560, NCT00001467, NCT00923364.)

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3912957

DOI: 10.3324/haematol.2013.090217
PubMed: 24077845
PubMed Central: 3912957

Affiliations:

États-Unis

Le document en format XML

<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Acquired <italic>ASXL1</italic>
 mutations are common in patients with inherited <italic>GATA2</italic>
 mutations and correlate with myeloid transformation</title>
<author><name sortKey="West, Robert R" sort="West, Robert R" uniqKey="West R" first="Robert R." last="West">Robert R. West</name>
<affiliation wicri:level="1"><nlm:aff id="af1-0990276">Experimental Transplantation and Immunology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Experimental Transplantation and Immunology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD</wicri:regionArea>
<wicri:noRegion>MD</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Hsu, Amy P" sort="Hsu, Amy P" uniqKey="Hsu A" first="Amy P." last="Hsu">Amy P. Hsu</name>
<affiliation wicri:level="1"><nlm:aff id="af2-0990276">Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD</wicri:regionArea>
<wicri:noRegion>MD</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Holland, Steven M" sort="Holland, Steven M" uniqKey="Holland S" first="Steven M." last="Holland">Steven M. Holland</name>
<affiliation wicri:level="1"><nlm:aff id="af2-0990276">Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD</wicri:regionArea>
<wicri:noRegion>MD</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Cuellar Rodriguez, Jennifer" sort="Cuellar Rodriguez, Jennifer" uniqKey="Cuellar Rodriguez J" first="Jennifer" last="Cuellar-Rodriguez">Jennifer Cuellar-Rodriguez</name>
<affiliation wicri:level="1"><nlm:aff id="af2-0990276">Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD</wicri:regionArea>
<wicri:noRegion>MD</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Hickstein, Dennis D" sort="Hickstein, Dennis D" uniqKey="Hickstein D" first="Dennis D." last="Hickstein">Dennis D. Hickstein</name>
<affiliation wicri:level="1"><nlm:aff id="af1-0990276">Experimental Transplantation and Immunology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Experimental Transplantation and Immunology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD</wicri:regionArea>
<wicri:noRegion>MD</wicri:noRegion>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PMC</idno>
<idno type="pmid">24077845</idno>
<idno type="pmc">3912957</idno>
<idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3912957</idno>
<idno type="RBID">PMC:3912957</idno>
<idno type="doi">10.3324/haematol.2013.090217</idno>
<date when="2014">2014</date>
<idno type="wicri:Area/Pmc/Corpus">002E25</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">002E25</idno>
<idno type="wicri:Area/Pmc/Curation">002E24</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">002E24</idno>
<idno type="wicri:Area/Pmc/Checkpoint">001D80</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">001D80</idno>
<idno type="wicri:Area/Ncbi/Merge">005D87</idno>
<idno type="wicri:Area/Ncbi/Curation">005D87</idno>
<idno type="wicri:Area/Ncbi/Checkpoint">005D87</idno>
<idno type="wicri:Area/Main/Merge">002D97</idno>
<idno type="wicri:Area/Main/Curation">002D92</idno>
<idno type="wicri:Area/Main/Exploration">002D92</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Acquired <italic>ASXL1</italic>
 mutations are common in patients with inherited <italic>GATA2</italic>
 mutations and correlate with myeloid transformation</title>
<author><name sortKey="West, Robert R" sort="West, Robert R" uniqKey="West R" first="Robert R." last="West">Robert R. West</name>
<affiliation wicri:level="1"><nlm:aff id="af1-0990276">Experimental Transplantation and Immunology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Experimental Transplantation and Immunology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD</wicri:regionArea>
<wicri:noRegion>MD</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Hsu, Amy P" sort="Hsu, Amy P" uniqKey="Hsu A" first="Amy P." last="Hsu">Amy P. Hsu</name>
<affiliation wicri:level="1"><nlm:aff id="af2-0990276">Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD</wicri:regionArea>
<wicri:noRegion>MD</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Holland, Steven M" sort="Holland, Steven M" uniqKey="Holland S" first="Steven M." last="Holland">Steven M. Holland</name>
<affiliation wicri:level="1"><nlm:aff id="af2-0990276">Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD</wicri:regionArea>
<wicri:noRegion>MD</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Cuellar Rodriguez, Jennifer" sort="Cuellar Rodriguez, Jennifer" uniqKey="Cuellar Rodriguez J" first="Jennifer" last="Cuellar-Rodriguez">Jennifer Cuellar-Rodriguez</name>
<affiliation wicri:level="1"><nlm:aff id="af2-0990276">Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD</wicri:regionArea>
<wicri:noRegion>MD</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Hickstein, Dennis D" sort="Hickstein, Dennis D" uniqKey="Hickstein D" first="Dennis D." last="Hickstein">Dennis D. Hickstein</name>
<affiliation wicri:level="1"><nlm:aff id="af1-0990276">Experimental Transplantation and Immunology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Experimental Transplantation and Immunology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD</wicri:regionArea>
<wicri:noRegion>MD</wicri:noRegion>
</affiliation>
</author>
</analytic>
<series><title level="j">Haematologica</title>
<idno type="ISSN">0390-6078</idno>
<idno type="eISSN">1592-8721</idno>
<imprint><date when="2014">2014</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass></textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en"><p>Inherited or sporadic heterozygous mutations in the transcription factor <italic>GATA2</italic>
 lead to a clinical syndrome characterized by non-tuberculous mycobacterial and other opportunistic infections, a severe deficiency in monocytes, B cells and natural killer cells, and progression from a hypocellular myelodysplastic syndrome to myeloid leukemias. To identify acquired somatic mutations associated with myeloid transformation in patients with <italic>GATA2</italic>
 mutations, we sequenced the region of the <italic>ASXL1</italic>
 gene previously associated with transformation from myelodysplasia to myeloid leukemia. Somatic, heterozygous <italic>ASXL1</italic>
 mutations were identified in 14/48 (29%) of patients with GATA2 deficiency, including four out of five patients who developed a proliferative chronic myelomonocytic leukemia. Although patients with <italic>GATA2</italic>
 mutations had a similarly high incidence of myeloid transformation when compared to previously described patients with <italic>ASXL1</italic>
 mutations, GATA2 deficiency patients with acquired <italic>ASXL1</italic>
 mutation were considerably younger, almost exclusively female, and had a high incidence of transformation to a proliferative chronic myelomonocytic leukemia. These patients may benefit from allogeneic hematopoietic stem cell transplantation before the development of acute myeloid leukemia or chronic myelomonocytic leukemia. (<italic><ext-link ext-link-type="uri" xlink:href="ClinicalTrials.gov">ClinicalTrials.gov</ext-link>
 identifier NCT00018044, NCT00404560, NCT00001467, NCT00923364</italic>
.)</p>
</div>
</front>
</TEI>
<affiliations><list><country><li>États-Unis</li>
</country>
</list>
<tree><country name="États-Unis"><noRegion><name sortKey="West, Robert R" sort="West, Robert R" uniqKey="West R" first="Robert R." last="West">Robert R. West</name>
</noRegion>
<name sortKey="Cuellar Rodriguez, Jennifer" sort="Cuellar Rodriguez, Jennifer" uniqKey="Cuellar Rodriguez J" first="Jennifer" last="Cuellar-Rodriguez">Jennifer Cuellar-Rodriguez</name>
<name sortKey="Hickstein, Dennis D" sort="Hickstein, Dennis D" uniqKey="Hickstein D" first="Dennis D." last="Hickstein">Dennis D. Hickstein</name>
<name sortKey="Holland, Steven M" sort="Holland, Steven M" uniqKey="Holland S" first="Steven M." last="Holland">Steven M. Holland</name>
<name sortKey="Hsu, Amy P" sort="Hsu, Amy P" uniqKey="Hsu A" first="Amy P." last="Hsu">Amy P. Hsu</name>
</country>
</tree>
</affiliations>
</record>

Pour manipuler ce document sous Unix (Dilib)

EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/LymphedemaV1/Data/Main/Exploration

HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 002D92 | SxmlIndent | more

HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 002D92 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Sante
   |area=    LymphedemaV1
   |flux=    Main
   |étape=   Exploration
   |type=    RBID
   |clé=     PMC:3912957
   |texte=   Acquired ASXL1 mutations are common in patients with inherited GATA2 mutations and correlate with myeloid transformation
}}

Pour générer des pages wiki

HfdIndexSelect -h $EXPLOR_AREA/Data/Main/Exploration/RBID.i   -Sk "pubmed:24077845" \
       | HfdSelect -Kh $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd   \
       | NlmPubMed2Wicri -a LymphedemaV1

This area was generated with Dilib version V0.6.31.
Data generation: Sat Nov 4 17:40:35 2017. Site generation: Tue Feb 13 16:42:16 2024

Serveur d'exploration sur le lymphœdème

Acquired ASXL1 mutations are common in patients with inherited GATA2 mutations and correlate with myeloid transformation

Acquired ASXL1 mutations are common in patients with inherited GATA2 mutations and correlate with myeloid transformation

Source :

Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

Pour générer des pages wiki

	Serveur d'exploration sur le lymphœdème
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.