Mutations In XPO1, POT1, BIRC3 and FBXW7
Winkelmann N, Rose-Zerilli MJ, Forster J, et al.
Key Points:
Authors investigated distribution, clinical significance and clonal acquisition of SF3B1, NOTCH1, XPO1, POT1, BIRC3, MYD88 and FBXW7 mutations in 140 patients with CLL
Mutations of SF3B1: 9% (21/225); NOTCH1: 5% (12/228); POT1: 6% (7/123); XPO1: 2% (4/196); MYD88: 1% (3/223) and BIRC3 mutations: 0.5% (1/222); FBXW7 mutations: 8% (3/36) of the trisomy 12 patients
In MBL/CLL cohorts: frequency of other gene mutations higher in patients with progressive disease and independent of SF3B1 and NOTCH1 mutations and deletions of 17p (MBL and CLL: 11 vs. 3%; p=0.031)
All patients with mutations targeting genes other than SF3B1 and NOTCH1 more likely to require treatment.
Implications:
- Identifying mutations in genes other than NOTCH1 and SF3B1 may have utility in clinical management of MBL/ CLL as they predict progressive disease, treatment requirement and reduced survival.
View the original abstract on the ASH website.
