CONGENITAL BONE MARROW FAILURE SYNDROMES ASSOCIATED WITH PROTEAN DEVELOPMENTAL DEFECTS AND LEUKEMIA

摘要: Congenital bone marrow failure syndromes are associated with a number of congenital abnormalities affecting wide range organ systems. The underlying molecular that cause these disorders affect normal embryonic development during the critical organogenesis phase (weeks 4 to 8). These predispose patients leukemia and other malignancies, genetic may represent first hit at least two hits necessary for malignant transformation. defects diseases just beginning be understood; mechanisms suggested by recent research include DNA repair (FA-A, FA-G); ribosomes (DBA, DC); electron transport (FA-C, Pearson's syndrome, Barth's syndrome). Understanding provides knowledge develop better therapy, possibly including gene offering time potential curing hematologic manifestations illnesses.