In Young Choi, Jonathan P Ling, Jian Zhang, Eric Helmenstine, Wencke Walter, Panagiotis Tsakiroglou, Riley E Bergman, Céline Philippe, James L Manley, Kevin Rouault-Pierre, Bing Li, Daniel Howard Wiseman, Kiran Batta, Madhu M Ouseph, Elsa Bernard, Benjamin Dubner, Xiao Li, Torsten Haferlach, Anna Koget, Salman Fazal, Tania Jain, Christopher D Gocke, Amy E DeZern, William Brian Dalton
Among the most common genetic alterations in the myelodysplastic syndromes (MDS) are mutations in the spliceosome gene SF3B1. Such mutations induce specific RNA missplicing events, directly promote ring sideroblast (RS) formation, and generally associate with more favorable prognosis. However, not all SF3B1 mutations are the same, and little is known about how distinct hotspots influence disease. Here we report that the E592K variant of SF3B1 associates with high-risk disease features in MDS, including a lack of RS, increased myeloblasts, a distinct co-mutation pattern, and a lack of the favorable survival seen with other SF3B1 mutations...
May 17, 2024: Blood Advances