Presented by Dr. Sam Reynolds, Hematologist–Oncologist in partnership with the Erdheim-Chester Disease Global Alliance (ECDGA). This presentation explores the molecular and clinical complexity of Erdheim-Chester Disease (ECD)—a rare histiocytic disorder characterized by the overproduction of abnormal immune cells called histiocytes. Drawing on research collaborations across major medical centers, including the University of Michigan, Mayo Clinic, Dana-Farber, and the University of Alabama at Birmingham, Dr. Reynolds provides a comprehensive overview of ECD’s origins, variability, and emerging research directions.
Through clear visuals and case examples, Dr. Reynolds explains how ECD develops from mutations in monocytes—specialized white blood cells that can transform into histiocytes within tissues. He illustrates how these mutations, often within the MAPK pathway (including BRAF, KRAS, and MAP2K1), disrupt normal cell growth and lead to inflammation, fibrosis, and tissue damage. The discussion also explores how these genetic findings are driving the rise of precision oncology—targeting treatments based on a patient’s specific molecular profile.
Key topics covered in this webinar include:
- How ECD arises from abnormalities in monocytes and histiocytes
- The role of somatic mutations in disease progression
- Clinical heterogeneity: why no two ECD patients are alike
- Advances in targeted therapy and precision medicine
- The connection between ECD, clonal hematopoiesis, and secondary cancers such as AML
- The importance of ongoing research and patient collaboration
Dr. Reynolds emphasizes that understanding the molecular landscape of ECD not only deepens scientific knowledge but also improves the ability to personalize treatment, predict outcomes, and enhance quality of life.