Bone marrow failure syndromes are a collection of entities that have variable impact on hematopoietic lineages, risk of transformation to MDS or AML and extra-hematopoietic syndromic features.  In addition to classic histopathology and clinical features, many of these diseases can now be defined by molecular alterations. Despite these advances in genetics, these diseases continue to be challenging to diagnose considering this heterogeneity and at times even more difficult to clinically manage.  This is particularly true when deciding whether to move patients to bone marrow transplantation.  Overall, the complexity of these diseases suggests a multidisciplinary approach is the best strategy for patient management. 

Sara Lewis, a Genetic Counselor, will discuss the critical role of a genetic evaluation in patients with concern for bone marrow failure and how these findings may impact future clinical management.

Dr. Mark Fleming, a Hematopathologist, will then review the role of a thorough microscopic evaluation in both the initial evaluation of patients with concern for a bone marrow failure syndrome and in the assessment for disease progression.