An RNA bestiary in splicing-mutant MDS

摘要

Mutations in components of the messenger RNA (mRNA) splicing machinery are the most commonly detected class of acquired genetic variant in blood and marrow cells from patients with myelodysplastic syndromes (MDS). However, how do these spliceosome mutations result in the core pathological features of MDS, such as failed hematopoiesis, cell dysmorphology, and clonal dominance? In this issue of Blood, Pellagatti in Oxford and his colleagues move us closer to understanding the mechanisms of splicing-induced changes, as they report comprehensive RNA sequencing data from 84 patients with MDS, including 28 with splicing mutations.(1)