Genetic Predisposition to Myelodysplastic Syndromes: A Challenge for Adult Hematologists.

ABSTRACT: Myelodysplastic syndromes (MDS) arising in the context of inherited bone marrow failure syndromes (IBMFS) differ in terms of prognosis and treatment strategy compared to MDS occurring in the adult population without an inherited genetic predisposition. The main molecular pathways affected in IBMFS involve telomere maintenance, DNA repair, biogenesis of ribosomes, control of proliferation and others. The increased knowledge on the genes involved in MDS pathogenesis and the wider availability of molecular diagnostic assessment have led to an improvement in the detection of IBMFS genetic predisposition in MDS patients. A punctual recognition of these disorders implies a strict surveillance of the patient in order to detect early signs of progression and promptly offer allogeneic hematopoietic

SUBMITTER: Crisa E 

PROVIDER: S-EPMC7959319 | biostudies-literature | 2021 Mar

REPOSITORIES: biostudies-literature