Lionel Ades

Apr 7, 2024 | nature.com | Carine D. Lefèvre |Raphaël M. Mangione |Batoul Farhat |Ismael Boussaid |Chloé Friedrich |Aurore Tourville | +21 more

AbstractMyelodysplastic syndromes (MDS) with mutated SF3B1 gene present features including a favourable outcome distinct from MDS with mutations in other splicing factor genes SRSF2 or U2AF1. Molecular bases of these divergences are poorly understood. Here we find that SF3B1-mutated MDS show reduced R-loop formation predominating in gene bodies associated with intron retention reduction, not found in U2AF1- or SRSF2-mutated MDS.

Dec 20, 2023 | nature.com | Rathana Kim |Karl Balabanian |Antoine Toubert |Nicolas Dulphy |Lionel Ades |David Fandrei

To the editor:Myelodysplastic neoplasms (MDS) are hematopoietic stem cell (HSC) disorders arising in the bone marrow (BM) from clonal outgrowth, with the successive acquisition of genetic lesions. MDS are characterized by ineffective hematopoiesis leading to persistent cytopenia affecting one or more hematopoietic lineages, dysplasia, and an increased risk of transformation to acute myeloid leukemia (AML) [1].