When should transplant physicians think about familial blood cancers?

Although germline predisposition to hematologic malignancy is gaining increasing recognition and more patients with acute myeloid leukemia and myelodysplastic syndrome may have a germline predisposition than previously thought, individuals and families with these mutations often go unrecognized. Nowhere are the potential consequences of missing an underlying germline predisposition more devastating than in the setting of allogeneic hematopoietic cell transplantation, a procedure often necessary to obtain the best chance of cure for patients with myeloid malignancies. In this brief review, we will discuss the importance of upfront screening all transplant recipients and all prospective donors to mitigate potential disastrous complications if such germline predisposition is overlooked. We will also outline features that should strongly arise suspicion and prompt testing for germline predisposition as well as highlight some of the challenges and barriers to genetic testing for patients with hematologic malignancies.