Publications by authors named "Emmanuelle Doye"
Article Synopsis
- The study investigates the impact of alterations in the p53 tumor-suppressor gene in Waldenstrom's macroglobulinemia (WM), a type of blood cancer, by analyzing genetic data from 125 WM patients and 10 control patients with IgM monoclonal gammopathy of undetermined significance (MGUS).
- Researchers found that 11.2% of WM patients had significant alterations in the p53 locus, with mutations present in 7.3% at diagnosis and linked to poor outcomes and more genomic abnormalities.
- The presence of these alterations was associated with shorter overall survival rates in WM patients, especially those with symptoms, highlighting the importance of genetic testing to guide treatment decisions and possibly explore targeted therapies like Nut
Purpose: Whole-genome sequencing has revealed MYD88 L265P and CXCR4 mutations (CXCR4(mut)) as the most prevalent somatic mutations in Waldenström macroglobulinemia. CXCR4 mutation has proved to be of critical importance in Waldenström macroglobulinemia, in part due to its role as a mechanism of resistance to several agents. We have therefore sought to unravel the different aspects of CXCR4 mutations in Waldenström macroglobulinemia.
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