Focusing on frequent ASXL1 mutations in myeloid neoplasms, and considering rarer ASXL2 and ASXL3 mutations
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چکیده
منابع مشابه
Frequent ASXL2 mutations in acute myeloid leukemia patients with t(8;21)/RUNX1-RUNX1T1 chromosomal translocations.
Acute myeloid leukemia (AML) with t(8;21) (q22;q22) is considered to have favorable risk; however, nearly half of t(8;21) patients are not cured, and recent studies have highlighted remarkable genetic heterogeneity in this subset of AML. Here we identify somatic mutations in additional sex combs-like 2 (ASXL2) in 22.7% (25/110) of patients with t(8;21), but not in patients with inv(16)/t(16;16)...
متن کاملAcquired ASXL1 mutations are common in patients with inherited GATA2 mutations and correlate with myeloid transformation.
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 m...
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Isolated isochromosome 17q, i(17q), accounts for less than 1% of myeloid neoplasms that are commonly classified as myelodysplastic/myeloproliferative neoplasms, acute myeloid leukemia (AML), myelodysplastic syndrome (MDS) or myeloproliferative neoplasms (MPN). We have shown previously that these cases have distinctive clinicopathologic features, a poor prognosis and absence of TP53 mutations. H...
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Gene mutations involving epigenetic regulators recently have been described in adult acute myeloid leukemia (AML). Similar studies are limited in children. We analyzed gene mutations and cooperation in pediatric AML with special reference on mutated epigenetic regulators. Nineteen gene mutations, including 8 class I genes, 4 class II genes, WT1 and TP53 (class III), and 5 epigenetic regulator g...
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1Wessex Regional Genetics Laboratory, Salisbury, and Human Genetics Division, School of Medicine, University of Southampton, Southampton, United Kingdom; 2Haematology Research Laboratory, Biomedical Research Foundation, Academy of Athens, Athens, Greece; 3Inflammation, Infection and Repair Division, School of Medicine, University of Southampton, Southampton, United Kingdom; 4III Medizinische Un...
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ژورنال
عنوان ژورنال: Current Medical Research and Opinion
سال: 2017
ISSN: 0300-7995,1473-4877
DOI: 10.1080/03007995.2017.1284049