Acquired and Germline Predisposition to Bone Marrow Failure: Diagnostic features and clinical implications

Bone marrow failure and related syndromes are rare disorders characterized by ineffective bone marrow hematopoiesis and peripheral cytopenias. Although many are associated with characteristic clinical features, recent advances have shown a more complicated picture with a spectrum of broad and overlapping phenotypes and imperfect genotype – phenotype correlations. Distinguishing acquired from inherited forms of marrow failure can be challenging, but is of crucial importance given differences in the risk of disease progression to myelodysplastic syndrome, acute myeloid leukemia, and other malignancies, as well as the potential to ge netically screen relatives and select the appropriate donor if hematopoietic stem cell transplantation becomes necessary.
Source: Seminars in Hematology - Category: Hematology Authors: Tags: Review Source Type: research