Cookies on this website
We use cookies to ensure that we give you the best experience on our website. If you click 'Continue' we'll assume that you are happy to receive all cookies and you won't see this message again. Click 'Find out more' for information on how to change your cookie settings.

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.

Original publication

DOI

10.1182/blood-2013-04-496893

Type

Journal article

Journal

Blood

Publication Date

31/10/2013

Volume

122

Pages

3165 - 3168

Keywords

Biomarkers, Tumor, CREB-Binding Protein, Cohort Studies, DNA Mutational Analysis, Disease Progression, Enhancer of Zeste Homolog 2 Protein, Gene Expression Profiling, Gene Frequency, Humans, Kaplan-Meier Estimate, Lymphoma, Follicular, MEF2 Transcription Factors, Mutation, Polycomb Repressive Complex 2, Receptors, Tumor Necrosis Factor, Member 14, Time Factors