denotes an abstract that is clinically relevant.
denotes that this is a recommended PHD Trainee Session.
denotes that this is a ticketed session.Hematology Disease Topics & Pathways:
Biological therapies, Bone Marrow Failure Syndromes, Inherited Marrow Failure Syndromes, Diseases, Therapies, Transplantation
Description:
Inherited bone marrow failure syndromes (IBMFS) often carry a risk of myelodysplastic syndrome (MDS) and leukemia, but hematopoietic cell transplantation (HCT) to prevent transformation may result in early mortality. Advances in monitoring for clonal evolution as well as tailored transplant approaches promise to change the risk:benefit ratio. This session will describe the state-of-the art in molecular tracking and transplant for IBMFS, how these are being exploited to determine optimal timing of interventions, and challenges and prospects for improving outcomes.
Dr. Kristen Schratz will discuss the landscape of somatic genetic alterations seen in children and adults with bone marrow failure and their relevance to caring for patients and assessing the risk of myeloid malignancy. Particular focus will be on SAMD9/9L, Shwachman-Diamond syndrome and short telomere syndromes.
Dr. Suneet Agarwal will discuss determinants of HCT timing in patients with IBMFS, and the impact of improved diagnosis, surveillance, and disease-specific minimal intensity transplant approaches in recent years. Cases will illustrate the conundrum for providers and patients seeking to pre-empt the evolution to hematologic malignancy and disease-associated co-morbidities while balancing the risks of HCT.
Dr. Kasiani Myers will focus on current knowledge of late effects after HCT for IBMFS and overlap with the natural history of these disorders starting with cases that highlight the importance of long-term monitoring in this setting. The talk will address the potential impact of lower intensity regimens, outline disease specific monitoring strategies to evaluate ongoing treatment and disease related complications, and discuss future strategies to further tailor data driven disease specific approaches.
Dr. Kristen Schratz will discuss the landscape of somatic genetic alterations seen in children and adults with bone marrow failure and their relevance to caring for patients and assessing the risk of myeloid malignancy. Particular focus will be on SAMD9/9L, Shwachman-Diamond syndrome and short telomere syndromes.
Dr. Suneet Agarwal will discuss determinants of HCT timing in patients with IBMFS, and the impact of improved diagnosis, surveillance, and disease-specific minimal intensity transplant approaches in recent years. Cases will illustrate the conundrum for providers and patients seeking to pre-empt the evolution to hematologic malignancy and disease-associated co-morbidities while balancing the risks of HCT.
Dr. Kasiani Myers will focus on current knowledge of late effects after HCT for IBMFS and overlap with the natural history of these disorders starting with cases that highlight the importance of long-term monitoring in this setting. The talk will address the potential impact of lower intensity regimens, outline disease specific monitoring strategies to evaluate ongoing treatment and disease related complications, and discuss future strategies to further tailor data driven disease specific approaches.