Síndromes de hemopatías mieloides malignas hereditarias

Revista Cubana de Hematología, Inmunología y Hemoterapia

Roque García, Wilfredo¹ 

[1] Instituto de Hematología e Inmunología, La Habana, Cuba

关键词: inherited myeloid malignancy syndromes;    germ line mutations.;   

DOI  :  

学科分类：生理学与病理学

来源: SciELO

【 摘 要 】

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.

【 授权许可】

CC BY-NC-SA