Complexity of CEBPA Mutated Acute Myeloid Leukemia
نویسندگان
چکیده
منابع مشابه
Expression of CEBPA is reduced in RUNX1-mutated acute myeloid leukemia
CEBPA (CCAAT/enhancer-binding protein alpha) is a member of the C/EBP family of bZIP transcription factors encoding two different translational protein isoforms. The CEBPA transcription factor is involved in cell cycle arrest, repression of self-renewal and myeloid differentiation during normal hematopoiesis. In acute myeloid leukemia (AML), mutations in CEBPA result in a cellular differentiati...
متن کاملMolecular Pathways Complexity of CEBPA Dysregulation in Human Acute Myeloid Leukemia
The transcription factor CCAAT enhancer binding protein alpha (CEBPA) is crucial for normal development of granulocytes. Various mechanisms have been identified how CEBPA function is dysregulated in patients with acute myeloid leukemia (AML). In particular, dominant-negative mutations located either at the Nor the C terminus of the CEBPA gene are observed in roughly 10% of AML patients, either ...
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Mutations in CCAAT/enhancer binding protein α (CEBPA) occur in 5-10% of cases of acute myeloid leukemia. CEBPA-double-mutated cases usually bear biallelic N- and C-terminal mutations and are associated with a favorable clinical outcome. Identification of CEBPA mutants is challenging because of the variety of mutations, intrinsic characteristics of the gene and technical issues. Several screenin...
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Mutations in the nucleophosmin 1 (NPM1) gene are considered a founder event in the pathogenesis of acute myeloid leukemia (AML). To address the role of clonal evolution in relapsed NPM1-mutated (NPM1mut) AML, we applied high-resolution, genome-wide, single-nucleotide polymorphism array profiling to detect copy number alterations (CNAs) and uniparental disomies (UPDs) and performed comprehensive...
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Abstract Background In Acute Myeloid Leukemia (AML), malignant clones of immature myeloid cells (primarily blasts) proliferate, replace bone marrow, circulate in blood and invade other tissues. The unique presentation of unilateral ptosis and unilateral eyelid swelling in AML has been reported during the present study. Case Report A 7-year-old girl was encountered with progressively increa...
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ژورنال
عنوان ژورنال: Blood
سال: 2014
ISSN: 0006-4971,1528-0020
DOI: 10.1182/blood.v124.21.2348.2348