SF3B1 mutations in chronic lymphocytic leukemia
Cet article passe en revue les travaux récents sur le rôle de mutations du gène SF3B1 dans les leucémies lymphocytaires chroniques
SF3B1 is a critical component of the splicing machinery, which catalyzes the removal of introns from precursor mRNA. Next-generation sequencing studies have identified mutations in SF3B1 in chronic lymphocytic leukemia (CLL) at high frequency. In CLL, SF3B1 mutation is associated with more aggressive disease and shorter survival, and recent studies suggest that it can be incorporated into prognostic schema to improve the prediction of disease progression. Mutations in SF3B1 are predominantly subclonal genetic events in CLL, and hence are likely later events in the progression of CLL. Evidence of altered pre-mRNA splicing has been detected in CLL cases with SF3B1 mutations. While the causative link between SF3B1 mutation and CLL pathogenesis remains unclear, several lines of evidence suggest SF3B1 mutation might be linked to genomic stability and epigenetic modification.