Table 2

Associations of SF3B1 mutation in patients with CLL and MDS

DiseaseInitial discovery of association, referenceAssociation with a disease subtypeFurther clinical associationsClonal status
CLL 2  del(11q)2,6  • Shorter treatment-free or overall survival3,4,6,7,18  Predominantly subclonal: likely a later event19  
3  • Faster disease progression2,4,5,18  
4  • Fludarabine refractoriness 
MDS 10  Refractory anemia with ring sideroblasts10,11,20-22  • Longer event-free or overall survival11,21-23  Predominantly clonal: likely an earlier event21  
11  • Lower risk of evolution into AML21  
DiseaseInitial discovery of association, referenceAssociation with a disease subtypeFurther clinical associationsClonal status
CLL 2  del(11q)2,6  • Shorter treatment-free or overall survival3,4,6,7,18  Predominantly subclonal: likely a later event19  
3  • Faster disease progression2,4,5,18  
4  • Fludarabine refractoriness 
MDS 10  Refractory anemia with ring sideroblasts10,11,20-22  • Longer event-free or overall survival11,21-23  Predominantly clonal: likely an earlier event21  
11  • Lower risk of evolution into AML21  
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