Molecular Profile Detail

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Profile Name EZH2 Y641H
Gene Variant Detail

EZH2 Y641H (gain of function)

Relevant Treatment Approaches EZH2 inhibitor

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
EZH2 mutant diffuse large B-cell lymphoma sensitive Everolimus + Tazemetostat Preclinical - Cell culture Actionable In a preclinical study, Tazemetostat (EPZ-6438) and Afinitor (everolimus) synergistically inhibited proliferation of diffuse large B-cell lymphoma cell lines harboring EZH2 mutations in culture (PMID: 28835384). 28835384
EZH2 mutant myelodysplastic syndrome not applicable N/A Guideline Prognostic EZH2 mutations are associated with a poor prognosis in patients with myelodysplastic syndrome (NCCN.org). detail...
EZH2 mutant diffuse large B-cell lymphoma sensitive A-395 Preclinical - Cell line xenograft Actionable In a preclinical study, a diffuse large B-cell lymphoma cell line harboring an EZH2 mutation demonstrated sensitivity to A-395, showing inhibition of tumor growth, however, due to its chemical properties A-395 will not proceed to clinical development (PMID: 28135237). 28135237
EZH2 mutant diffuse large B-cell lymphoma sensitive Tazemetostat Preclinical - Cell line xenograft Actionable In a preclinical study, diffuse large B-cell lymphoma cell lines harboring EZH2 mutations demonstrated increased sensitivity to Tazemetostat (EPZ-6438) treatment-induced growth inhibition, apoptosis, and tumor inhibition compared to EZH2 wild-type cell lines (PMID: 28835384). 28835384
EZH2 mutant diffuse large B-cell lymphoma sensitive Tazemetostat + Trametinib Preclinical - Cell culture Actionable In a preclinical study, Tazemetostat (EPZ-6438) and Mekinist (trametinib) synergistically inhibited proliferation of diffuse large B-cell lymphoma cell lines harboring EZH2 mutations in culture (PMID: 28835384). 28835384
EZH2 mutant diffuse large B-cell lymphoma sensitive Ibrutinib + Tazemetostat Preclinical - Cell culture Actionable In a preclinical study, Tazemetostat (EPZ-6438) and Imbruvica (ibrutinib) synergistically inhibited proliferation of diffuse large B-cell lymphoma cell lines harboring EZH2 mutations in culture (PMID: 28835384). 28835384
EZH2 mutant myelodysplastic/myeloproliferative neoplasm not applicable N/A Guideline Prognostic EZH2 mutations are associated with a poor prognosis in patients with myelodysplastic/myeloproliferative neoplasm (NCCN.org). detail...
EZH2 mutant follicular lymphoma sensitive Tazemetostat Guideline Actionable Tazverik (tazemetostat) is included in guidelines as a second-line or subsequent therapy for patients with follicular lymphoma harboring EZH2 mutations (NCCN.org). detail...
EZH2 mutant follicular lymphoma sensitive Tazemetostat Phase II Actionable In a Phase II trial, Tazverik (tazemetostat) treatment resulted in an objective response in 71% (20/28, 3 complete response, 17 partial response) and stable disease in 29% (8/28) of patients with relapsed or refractory follicular lymphoma harboring EZH2 mutations, while only resulted in object response rate in 33% (18/54, 3 complete response, 15 partial response) and stable disease in 31% (16/54) of patients with EZH2 wild-type disease (PMID: 29980507). 29980507
EZH2 mutant diffuse large B-cell lymphoma sensitive Tamatinib + Tazemetostat Preclinical - Cell culture Actionable In a preclinical study, Tazemetostat (EPZ-6438) and Tamatinib (R406) synergistically inhibited proliferation of diffuse large B-cell lymphoma cell lines harboring EZH2 mutations in culture (PMID: 28835384). 28835384
EZH2 mutant diffuse large B-cell lymphoma sensitive MK2206 + Tazemetostat Preclinical - Cell culture Actionable In a preclinical study, Tazemetostat (EPZ-6438) and MK-2206 synergistically inhibited proliferation of diffuse large B-cell lymphoma cell lines harboring EZH2 mutations in culture (PMID: 28835384). 28835384
EZH2 mutant diffuse large B-cell lymphoma sensitive Idelalisib + Tazemetostat Preclinical - Cell culture Actionable In a preclinical study, Tazemetostat (EPZ-6438) and Zydelig (idelalisib) synergistically inhibited proliferation of diffuse large B-cell lymphoma cell lines harboring EZH2 mutations in culture (PMID: 28835384). 28835384
EZH2 mutant myelofibrosis not applicable N/A Guideline Prognostic EZH2 mutations are associated with inferior overall survival in patients with myelofibrosis (NCCN.org). detail...
EZH2 mutant essential thrombocythemia not applicable N/A Guideline Prognostic The presence of at least one mutation in either SH2B3, IDH2, U2AF1, SRSF2, SF3B1, EZH2, TP53, or RUNX1 is associated with inferior overall survival in patients with essential thrombocythemia, EZH2 mutations are also associated with inferior leukemia-free survival (NCCN.org). detail...
Clinical Trial Phase Therapies Title Recruitment Status