Publications by authors named "S Brechignac"
Multiple myeloma is characterized by a huge heterogeneity at the molecular level. The RAS/RAF pathway is the most frequently mutated, in ∼50% of the patients. However, these mutations are frequently subclonal, suggesting a secondary event.
View Article and Find Full Text PDFArticle Synopsis
- Cytogenetic abnormalities are key indicators of prognosis in multiple myeloma, with del(1p32) identified as a significant negative factor after del(17p).
- In a study of 2,551 newly diagnosed patients, those with del(1p32) had a much shorter overall survival (49 months) compared to those without it (124 months).
- The impact of del(1p32) is even worse for patients with biallelic deletions, leading to a median overall survival of just 25 months, emphasizing the need for thorough assessment at diagnosis for appropriate treatment strategies.
Purpose: Multiple myeloma (MM) is characterized by copy number abnormalities (CNAs), some of which influence patient outcomes and are sometimes observed only at relapse(s), suggesting their acquisition during tumor evolution. However, the presence of micro-subclones may be missed in bulk analyses. Here, we use single-cell genomics to determine how often these high-risk events are missed at diagnosis and selected at relapse.
View Article and Find Full Text PDF