Pathophysiology and management of inherited bone marrow failure syndromes

A Shimamura, BP Alter - Blood reviews, 2010 - Elsevier
The inherited marrow failure syndromes are a diverse set of genetic disorders characterized
by hematopoietic aplasia and cancer predisposition. The clinical phenotypes are highly
variable and much broader than previously recognized. The medical management of the
inherited marrow failure syndromes differs from that of acquired aplastic anemia or
malignancies arising in the general population. Diagnostic workup, molecular pathogenesis,
and clinical treatment are reviewed.