Acquired ASXL1 mutations are common in patients with inherited GATA2 mutations and correlate with myeloid transformation
Identifieur interne : 002D92 ( Main/Curation ); précédent : 002D91; suivant : 002D93Acquired 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.
Abstract
Inherited or sporadic heterozygous mutations in the transcription factor
Url:
DOI: 10.3324/haematol.2013.090217
PubMed: 24077845
PubMed Central: 3912957
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PMC:3912957Le document en format XML
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mutations are common in patients with inherited <italic>GATA2</italic>
mutations and correlate with myeloid transformation</title>
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<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>
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<series><title level="j">Haematologica</title>
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<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>
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