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Revista Cubana de Hematología, Inmunología y Hemoterapia
versão On-line ISSN 1561-2996
Resumo
ROQUE GARCIA, Wilfredo; SARDUY SAEZ, Sandra e JAIME FAGUNDO, Juan Carlos. Inherited myeloid malignancy syndromes. Rev Cubana Hematol Inmunol Hemoter [online]. 2018, vol.34, n.2, pp. 116-124. ISSN 1561-2996.
The familial predisposition to inherited myeloid malignancies has been described since several decades ago; however, only recently have been possible to known the molecular basis of these syndromes. The importance to recognize and diagnosed predisposing germ line mutations in patients and relatives contributed to the introduction of this new category in the latest update of myeloid neoplasm and acute leukemia by World Health Organization (WHO). The use of modern molecular biology techniques has achieved the discovery of genetic mutations that shed light inside leukemogenesis process, allow offering a genetic counseling, a better donor selection and are the basis of future therapeutics targets. The main hereditary myeloid malignancy syndromes (IMMS) are reviewed, emphasizing the need of exhaustive personal and family clinical history and to have a high suspicion index to diagnose these entities.
Palavras-chave : inherited myeloid malignancy syndromes; germ line mutations.