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Bone Marrow Failure Syndromes: Diagnostic Principles in 2022

Program: Spotlight Sessions
Hematology Disease Topics & Pathways:
Clinical Practice (Health Services and Quality), Bone Marrow Failure Syndromes, Diseases
Sunday, December 11, 2022: 4:30 PM-5:45 PM
260-262 (Ernest N. Morial Convention Center)
Jeffery Klco, MD, PhD, Saint Jude Children's Research Hospital
No relevant conflicts of interest to declare.
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.

Sara Lewis, MS, CGC

Department of Hematology, St Jude Children's Research Hospital, Lakeland, TN

Mark D. Fleming, MD, DPhil

Department of Pathology, Boston Children's Hospital, Boston, MA

See more of: Spotlight Sessions