Clonal Abundance Determines The Prognostic Relevance Of a NOTCH1 Mutation In Chronic Lymphocytic Leukemia
Stefanie Rost, Michael Möllmann, Lewin Eisele et al.
Key Points:
Transmembrane receptor NOTCH1 as ligand-activated transcription factor which controls developmental processes, proliferation and apoptosis.
NOTCH1 mutation (N1ΔCT) associated with impaired OS.
Restriction fragment length polymorphism (RFLP) detected N1ΔCT mutation patiensts vs N1ΔCT-unmutated patients, OS 87 months vs 218 months; p=0.017.
OS of allele-specific PCR-positive cases did not differ significantly.
Implications:
N1ΔCT-mutated CLL clone associated with aggressive disease course.
N1ΔCT allele frequency below 15% no clinical relevance and therefore detection of mutation by PCR not associated with shortened survival.
View the original abstract on the ASH website.
