Somatic mutations in aplastic anemia: Significance for classification, therapy, and outcome
EHA Library. Marsh J. Jun 15, 2019; 273661
Judith Marsh
Judith Marsh
Learning Objectives

Charlotte Niemeyer - Chair introduction

Immune-mediated severe aplastic anemia (SAA) typically presents with rapidly decreasing blood counts of all lineages and a profoundly hypocellular bone marrow. Much effort has been invested in characterizing its immune signature targeting hematopoietic stem and progenitor cells. In this education session Neal S. Young M.D. will summarize our current understanding of the SAA immune phenotype and outline principles of standard therapy with immunosuppression and more recently stem cell stimulation. Andrea Bacigalupo M.D. will discuss current indications for allogeneic hematopoietic stem cell transplantation (HSCT) in SAA and develop future perspectives of upfront alternative donor grafts. It has long been appreciated that abnormal clones can expand in SAA bone marrow. Judith Marsh M.D. will review the impact of the immune signature of SAA and hypoplastic myelodysplastic syndrome (MDS) on the development of somatic mutations and outline their clinical significance for classification, therapy, and outcome.

Learning goals of the article
• To recognize the clinical implications of our current understanding of SAA pathophysiology.
• To be able to identify an appropriate treatment strategy—immunosuppressive therapy, stem cell stimulation, HSCT—for individual patients with SAA.
• To understand the significance of somatic mutations detected in bone marrow of patients with SAA and hypoplastic MDS.

Learning goals of the presentation
After attending this lecture, the participant will be able to
• describe the different types of somatic mutations that may be detected in patients with aplastic anemia,
• discuss different features of somatic mutations in aplastic anaemia and myelodysplastic syndrome, and
• discuss how best to evaluate the significance of somatic mutations in patients with aplastic anemia.

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