The Clonal Origin and Evolution of High-Risk Multisystem Histiocytosis in Adults | ECDGA 2025
Автор: ECD Global Alliance
Загружено: 2025-09-11
Просмотров: 16
This video features Professor Matthew Collin of Newcastle University, UK, presenting his research on the clonal origin and evolution of high-risk multisystem histiocytosis in adults at the ECD Global Alliance (ECDGA) Medical Symposium, held May 27, 2025, in Barcelona, Spain.
In this seminar, Professor Collin discusses groundbreaking findings on the role of somatic mutations in RAS-MAPK genes, clonal hematopoiesis, and the mechanisms driving disease progression in Erdheim-Chester Disease (ECD) and Langerhans Cell Histiocytosis (LCH). Using whole genome sequencing and single-cell analysis, his work sheds light on how convergent evolution of NRAS, KRAS, and BRAF mutations—often arising decades before clinical presentation—contributes to the aggressive nature of adult histiocytosis.
The presentation highlights how understanding clonal architecture, disease trajectory, and mutational timing can shape precision medicine approaches for histiocytic disorders. With insights into myeloid neoplasms, immune dysregulation, and translational research, this session offers valuable perspectives for clinicians, researchers, and hematology specialists dedicated to advancing rare disease care.
This session took place on Day Two of the Medical Symposium, part of the ECDGA’s 10th Annual International Conference, which brought together leading global experts to share cutting-edge research and clinical updates in Erdheim-Chester Disease and related histiocytic disorders.
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