Abstract
Myeloid Neoplasms with germline predisposition become part of 2016 World Health Organization (WHO) classification of hematological malignancies since 2016. CCAAT/enhancer binding protein-alpha (CEBPA) is a myeloid transcription factor located in chromosome 19q. Acute myeloid leukemia (AML) with biallelic mutations of CEBPA AML with recurrent genetic abnormalities according to WHO classification. The inheritance of a germline CEBPA mutation predisposes to the development of AML with autosomal dominant inheritance. Familial CEBPA AML share characteristics with somatic CEBPA AML. However, a higher relapse incidence is reported. We present the case of a 46-years-old male with family history of acute leukemia who was diagnosed with single mutated CEBPA acute myeloid leukemia. The same mutation was found in two of his siblings. The clinical suspicion and proper diagnosis of familial cases is necessary, especially when a related allogenic transplant is indicated in order to select an adequate donor.
Highlights
Myeloid Neoplasms with germline pre- due to loss of heterozygosity (LOH), no wt entation and designed molecular biology disposition become part of 2016 World
Acute myeloid leukemia (AML) with biallelic mutations of e CCAAT/enhancer binding protein-alpha n (CEBPA) AML with recurrent genetic abnors malities according to World Health Organization (WHO) classification. u The inheritance of a germline CEBPA mutal tion predisposes to the development of ia AML with autosomal dominant inheritance
Some patients may inherit a germline CEBPA mutation that predisposes to the development of AML with autosomal dominant inheritance
Summary
Matilde Boada,[1] Ana Inés Catalán,[2] Carolina Ottati,[2] Florencia Bentancour,[1] Daniela Lens,[2] Cecilia Guillermo,[1]. MB assisted the patient, participated in diagnosis, family assessment and treatment She wrote this case presentation and reviewed literature. Acute myeloid leukemia (AML) with biallelic mutations of e CEBPA AML with recurrent genetic abnors malities according to WHO classification. We e present the case of a 46-years-old male with family history of acute leukemia who was m diagnosed with single mutated CEBPA acute myeloid leukemia. CEBPA expressed.[6] AML with biallelic mutations of CEBPA (CEBPAdm) is included as one of AML with recurrent genetic abnormalities in WHO classification.[1] some patients may inherit a germline CEBPA mutation that predisposes to the development of AML with autosomal dominant inheritance. It has been reported that more than 10% of AML with biallelic CEBPA mutations carried a N-terminal frameshift CEBPA germline mutation,[7] with acquisition of a C-terminal somatic mutation as a second event in the development of AML
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