Molecular Profile Detail


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Profile Name EZH2 Y646N
Gene Variant Detail

EZH2 Y646N (gain of function)

Relevant Treatment Approaches EZH2 inhibitor


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Molecular Profile Indication/Tumor Type Response Type Relevant Treatment Approaches Therapy Name Approval Status Evidence Type Efficacy Evidence References
EZH2 Y646N melanoma sensitive EZH2 inhibitor GSK126 Preclinical - Cell culture Actionable In a preclinical study, GSK126 treatment inhibited cell growth via suppression of downstream tumor suppressor gene targets and induced apoptosis in melanoma cells harboring EZH2 Y646N in culture (PMID: 26304929). 26304929
EZH2 Y646N follicular lymphoma sensitive EZH2 inhibitor Tazemetostat FDA approved - On Companion Diagnostic Actionable In a Phase II trial that supported FDA approval, Tazverik (tazemetostat) treatment was well-tolerated, resulted in a median progression-free survival of 11.1 months, objective response in 77% (33/43), and stable disease in 23% (10/43) of patients with relapsed or refractory follicular lymphoma, who had two or more prior therapies and harbored EZH2 mutations as detected by an approved test, including EZH2 Y646N (Blood (2019) 134 (Supplement_1):123; NCT01897571). detail... detail... detail...
EZH2 Y646N diffuse large B-cell lymphoma sensitive EED226 Preclinical - Cell culture Actionable In a preclinical study, a diffuse large B-cell lymphoma cell line harboring EZH2 Y646N demonstrated sensitivity to EED226, resulting in inhibition of cell proliferation in culture (PMID: 28135235). 28135235
EZH2 Y646N lymphoma sensitive EZH2 inhibitor Tazemetostat Preclinical - Cell line xenograft Actionable In a preclinical study, treatment with Tazemetostat (EPZ-6438) inhibited proliferation and induced apoptosis in lymphoma cell lines harboring EZH2 Y646N in culture, and complete eradication of tumors in cell line xenograft models (PMID: 24563539). 24563539
Clinical Trial Phase Therapies Title Recruitment Status