期刊
BLOOD
卷 122, 期 18, 页码 3165-3168出版社
AMER SOC HEMATOLOGY
DOI: 10.1182/blood-2013-04-496893
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资金
- Leukaemia Lymphoma Research UK [10036]
- European Hematology Association [2009/01]
- Kay Kendall Leukaemia Fund Junior Clinical Research Fellowship [KKL 557]
- OTKA [K-76204]
- Cancer Research UK Programme award [C15966/A15968]
- European Union
- State of Hungary
- European Social Fund in the framework of TAMOP National Excellence Program [4.2.4. A/-11-1-2012-0001]
- Cancer Research UK [15968, 12008] Funding Source: researchfish
- Medical Research Council [G0700052] Funding Source: researchfish
- National Institute for Health Research [CL-2007-19-002, ACF-2011-19-002] Funding Source: researchfish
- MRC [G0700052] Funding Source: UKRI
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 othermutation 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.
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