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EZH2 mutations are frequent and represent an early event in follicular lymphoma.
- Source :
-
Blood [Blood] 2013 Oct 31; Vol. 122 (18), pp. 3165-8. Date of Electronic Publication: 2013 Sep 19. - Publication Year :
- 2013
-
Abstract
- Gain of function mutations in the H3K27 methyltransferase EZH2 represent a promising therapeutic target in germinal center lymphomas. In this study, we assessed the frequency and distribution of EZH2 mutations in a large cohort of patients with follicular lymphoma (FL) (n = 366) and performed a longitudinal analysis of mutation during the disease progression from FL to transformed FL (tFL) (n = 33). Mutations were detected at 3 recurrent mutation hot spots (Y646, A682, and A692) in 27% of FL cases with variant allele frequencies (VAF) ranging from 2% to 61%. By comparing VAF of EZH2 with other mutation targets (CREBBP, MLL2, TNFRSF14, and MEF2B), we were able to distinguish patients harboring clonal EZH2 mutation from rarer cases with subclonal mutations. Overall, the high incidence of EZH2 mutations in FL and their stability during disease progression makes FL an appropriate disease to evaluate EZH2 targeted therapy.
- Subjects :
- CREB-Binding Protein genetics
Cohort Studies
DNA Mutational Analysis
Disease Progression
Enhancer of Zeste Homolog 2 Protein
Gene Expression Profiling
Gene Frequency
Humans
Kaplan-Meier Estimate
Lymphoma, Follicular pathology
MEF2 Transcription Factors genetics
Receptors, Tumor Necrosis Factor, Member 14 genetics
Time Factors
Biomarkers, Tumor genetics
Lymphoma, Follicular genetics
Mutation
Polycomb Repressive Complex 2 genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1528-0020
- Volume :
- 122
- Issue :
- 18
- Database :
- MEDLINE
- Journal :
- Blood
- Publication Type :
- Academic Journal
- Accession number :
- 24052547
- Full Text :
- https://doi.org/10.1182/blood-2013-04-496893