Publications by authors named "Florence Acha"
Article Synopsis
- Mutations in the TP53 gene, especially multihit alterations, are linked to worse clinical outcomes in patients with myelodysplastic syndrome (MDS).
- This study analyzed TP53 abnormalities in 682 patients with MDS who had an isolated deletion of chromosome 5 (MDS-del(5q)), revealing that 24% had multihit mutations, indicating a greater risk for leukemic transformation.
- The study found that the effect of monoallelic mutations varies with the variant allele frequency (VAF); lower VAF (<20%) behaved like wild-type TP53, while higher VAF (≥20%) showed outcomes similar to multihit mutations, highlighting the need for careful consideration of TP53 status in
Blood Cancer Discov
November 2022
Article Synopsis
- * Researchers found that SF3B1 mutations activate the EIF2AK1 pathway due to heme deficiency, and targeting this pathway can improve red blood cell maturation in MDS-RS patients.
- * The findings suggest that developing EIF2AK1 inhibitors could provide new treatment options for MDS-RS patients, reducing their reliance on blood transfusions and addressing iron overload from frequent transfusions.
