Identifying drivers of extramedullary progression in multiple myeloma

This project focused on multiple myeloma, a white blood cell cancer that typically arises in the bone marrow. When it forms tumours outside the bone marrow, known as extramedullary myeloma, it becomes resistant to therapies and is associated with poor outcomes. Using novel genetic techniques, this project analysed biopsies of extramedullary tumours to identify the genetic changes that drive the progression from bone marrow to extramedullary disease, and validated the impact of specific mutations through the development of genetically engineered cell lines. These mutations were detectable in the blood of patients with extramedullary myeloma, and this work established the role of these liquid biopsies in the diagnosis and monitoring of extramedullary myeloma.