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Abstract
Familial myeloid malignancies are a broad and heterogeneous group of entities usually not suspected
in young people and adults. They occur because of the transmission of mutations in the germline through different family inheritance patterns that involve fundamental genes in hematopoiesis, so that the susceptibility to develop neoplastic diseases is increased. The fact that this group is underdiagnosed is known, with a real prevalence probably greater than that currently recognized. The impact on thediagnostic and therapeutic management of patients and their families is such that it is necessary to direct our effort in learning to recognize them.
Two clinical cases of the population of patients from the Hematology Department of a high complexity center are presented. The first one with a confirmed diagnosis of familial acute myeloid leukemia with mutated CEBPA gene and the second with a high suspicion of a familial myeloid neoplasm with pre-existing platelet disorders associated with RUNX1 gene germline mutation.
References
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