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Gene Symbol DNMT3A
Synonyms DNMT3A2 | HESJAS | M.HsaIIIA | TBRS
Gene Description DNMT3A, DNA methyltransferase 3 alpha, mediates DNA methylation and functions in modification of gene expression, and plays a role in hematopoietic differentiation (PMID: 28286768, PMID: 25693834), DNMT3A mutations are frequent in acute myeloid leukemia, and are recurrent in myelodysplastic syndromes (PMID: 28286768, PMID: 28003281).

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
DNMT3A mutant acute myeloid leukemia not applicable N/A Clinical Study Prognostic In clinical analyses, mutations in DNMT3A were associated with poor prognosis and shorter overall survival in patients with acute myeloid leukemia (PMID: 22490330, PMID: 21881046, PMID: 21670448). 22490330 21881046 21670448
DNMT3A mutant acute myeloid leukemia predicted - sensitive Decitabine Clinical Study - Cohort Actionable In a clinical study, acute myeloid leukemia patients harboring DNMT3A mutations demonstrated a greater complete response rate (60% vs 33%) compared to patients with wild-type DNMT3A when treated with frontline hypomethylating agents such as Dacogen (decitabine) (PMID: 27418649). 27418649
DNMT3A mutant acute myeloid leukemia sensitive Pinometostat Preclinical - Cell line xenograft Actionable In a preclinical study, Pinometostat (EPZ-5676) treatment of acute myeloid leukemia cell lines and xenografts resulted in apoptosis, cell-cycle arrest, and terminal differentiation (PMID: 27335278). 27335278
DNMT3A mutant angioimmunoblastic T-cell lymphoma not applicable N/A Guideline Diagnostic DNMT3A mutations aid in the diagnosis of angioimmunoblastic T-cell lymphoma (NCCN.org). detail...
DNMT3A mutant myelofibrosis not applicable N/A Guideline Prognostic DNMT3A mutations are associated with inferior overall survival in patients with primary myelofibrosis (NCCN.org). detail...
DNMT3A mut FLT3 mut NPM1 mut acute myeloid leukemia not applicable N/A Clinical Study Emerging In a retrospective analysis, the combination of DNMT3A, FLT3, and NPM1 mutations in patients with acute myeloid leukemia was highly associated with decreased event-free survival and overall survival, suggesting that this combination profile may serve as a future prognostic biomarker (PMID: 25281355). 25281355
DNMT3A mut FLT3 exon 14 ins NPM1 mut acute myeloid leukemia predicted - sensitive KO-539 Preclinical - Pdx Actionable In a preclinical study, KO-539 treatment resulted in clearance of leukemia cells in patient-derived xenograft (PDX) models of acute myeloid leukemia harboring mutations in NPM1, DNMT3, and FLT3 exon 14 (ITD) (AACR; Mol Cancer Ther 2018;17(1 Suppl):Abstract nr LB-A27). detail...
DNMT3A mut FLT3 exon 14 ins NPM1 mut acute myeloid leukemia predicted - sensitive Entospletinib Preclinical - Patient cell culture Actionable In a preclinical study, co-occurrence of FLT3-ITD, DNMT3A, and NPM1 mutations correlated with sensitivity to Entospletinib in patient-derived acute myeloid leukemia samples in an ex vivo assay (PMID: 30333627). 30333627
DNMT3A mut FLT3 exon 14 ins NPM1 mut acute myeloid leukemia predicted - sensitive Ibrutinib Preclinical - Patient cell culture Actionable In a preclinical study, co-occurrence of FLT3-ITD , DNMT3A, and NPM1 mutations correlated with sensitivity to Imbruvica (ibrutinib) in patient-derived acute myeloid leukemia samples in an ex vivo assay (PMID: 30333627). 30333627
DNMT3A mut NPM1 mut acute myeloid leukemia predicted - sensitive Entospletinib Preclinical - Patient cell culture Actionable In a preclinical study, co-occurrence of DNMT3A and NPM1 mutations correlated with sensitivity to Entospletinib in patient-derived acute myeloid leukemia samples in an ex vivo assay (PMID: 30333627). 30333627
DNMT3A mut NPM1 mut acute myeloid leukemia predicted - sensitive Ibrutinib Preclinical - Patient cell culture Actionable In a preclinical study, co-occurrence of DNMT3A and NPM1 mutations correlated with sensitivity to Imbruvica (ibrutinib) in patient-derived acute myeloid leukemia samples in an ex vivo assay (PMID: 30333627). 30333627
DNMT3A R882H NRAS G12D acute myeloid leukemia sensitive I-BET151 Preclinical - Cell line xenograft Actionable In a preclinical study, an acute myeloid leukemia cell line harboring DNMT3A R882H and NRAS G12D mutations demonstrated reduced proliferation and downregulation of a DNMT3A R882H associated gene expression profile upon I-BET151 treatment in culture, and I-BET151 treatment delayed the onset of leukemia symptoms and improved survival in xenograft mouse models derived from these cells (PMID: 31164355). 31164355
DNMT3A R882H NRAS G12D acute myeloid leukemia sensitive Trametinib Preclinical - Cell line xenograft Actionable In a preclinical study, an acute myeloid leukemia cell line xenograft model harboring DNMT3A R882H and NRAS G12D was sensitive to Mekinist (trametinib), demonstrating impaired disease progression and improved survival (PMID: 31164355). 31164355
DNMT3A R882H NRAS G12D acute myeloid leukemia sensitive I-BET151 + Trametinib Preclinical - Cell line xenograft Actionable In a preclinical study, an acute myeloid leukemia cell line xenograft model harboring DNMT3A R882H and NRAS G12D treated with combined I-BET151 and Mekinist (trametinib) demonstrated impaired disease progression and improved survival superior to either therapy alone (PMID: 31164355). 31164355
DNMT3A wild-type FLT3 mut NPM1 mut acute myeloid leukemia predicted - sensitive KO-539 Preclinical - Pdx Actionable In a preclinical study, KO-539 treatment prevented disease progression in patient-derived xenograft (PDX) models of DNMT3A wild-type acute myeloid leukemia harboring mutations in NPM1 and FLT3 (AACR; Mol Cancer Ther 2018;17(1 Suppl):Abstract nr LB-A27). detail...