Gene Variant Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, variants, or PubMed publications.

Have questions, comments or suggestions? - Let us know!

Email us at : ckbsupport@jax.org

Gene NPM1
Variant mutant
Impact List unknown
Protein Effect unknown
Gene Variant Descriptions NPM1 mutant indicates an unspecified mutation in the Npm1 gene.
Associated Drug Resistance

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page, filtering has no impact on query parameters
  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

Sorting

  • Generally, the default sort order for tables is set to be first column ascending, however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column, be sure to set ascending or descending order for a given column, before moving on to the next column.

No Variant Reference Transcript is Available.
No transcript is Available.

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page, filtering has no impact on query parameters
  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

Sorting

  • Generally, the default sort order for tables is set to be first column ascending, however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column, be sure to set ascending or descending order for a given column, before moving on to the next column.

Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
NPM1 mutant acute myeloid leukemia sensitive NSC348884 Preclinical Actionable In a preclinical study, acute myeloid leukemia cells harboring a NPM1 mutation were sensitive to NSC348884 as demonstrated by induced apoptosis (PMID: 21719597). 21719597
NPM1 mutant leukemia predicted - sensitive EPZ004777 Preclinical Actionable In preclinical study, treatment with EPZ004777 resulted in reduced proliferation and increased differentiation of murine leukemia cells expressing an NPM1 mutation, and improved survival in NPM1-mutant murine leukemia models (PMID: 27535106). 27535106
NPM1 mutant acute myeloid leukemia not applicable N/A Clinical Study Prognostic In multiple clinical studies, an NPM1 mutation without FLT3 internal tandem duplication (ITD) mutation was associated with favorable prognosis in acute myeloid leukemia (AML) patients, compared to AML patients harboring an NPM1 mutation and FLT3 ITD mutation (PMID: 19047294, PMID: 24573385, PMID: 25713434). 25713434 19047294 24573385
NPM1 mutant acute myeloid leukemia not applicable N/A Clinical Study Prognostic In clinical analyses, mutations in NPM1, in the absence of a FLT3 ITD mutation, were associated with favorable prognosis in acute myeloid leukemia patients with normal karyotype (PMID: 26239249, PMID: 26586702, PMID: 26676635, PMID: 16109776). 26239249 26676635 16109776 26586702
NPM1 mutant acute myeloid leukemia predicted - sensitive Ibrutinib Preclinical - Patient cell culture Actionable In a preclinical study, NPM1 mutations correlated with sensitivity to Imbruvica (ibrutinib) in patient-derived acute myeloid leukemia samples in an ex vivo assay (PMID: 30333627). 30333627
NPM1 mutant acute myeloid leukemia sensitive ENMD-2076 Phase I Actionable In a Phase I trial, three acute myeloid leukemia patient harboring an NPM1 mutation demonstrated anti-leukemia activity when treated with ENMD-2076 (PMID: 27406088). 27406088
NPM1 mutant acute myeloid leukemia predicted - sensitive Entospletinib Preclinical - Patient cell culture Actionable In a preclinical study, NPM1 mutations correlated with sensitivity to Entospletinib in patient-derived acute myeloid leukemia samples in an ex vivo assay (PMID: 30333627). 30333627
NPM1 mutant acute myeloid leukemia predicted - sensitive EPZ004777 Preclinical - Patient cell culture Actionable In a preclinical study, EPZ004777 decreased HOX gene expression, and reduced proliferation and increased differentiation of a human acute myeloid leukemia (AML) cell line and primary AML samples harboring NPM1 mutations in culture (PMID: 27535106). 27535106
NPM1 mutant acute myeloid leukemia predicted - sensitive Cytarabine + Venetoclax Phase Ib/II Actionable In a Phase I/II trial, Venclexta (venetoclax) in combination with low-dose cytarabine resulted in complete remission or complete remission with incomplete count recovery in 89% (8/9) of patients with acute myeloid leukemia harboring NPM1 mutations who were ineligible for intensive chemotherapy (ASH Annual Meeting, Dec 2018, Abstract 284; NCT02287233). detail...
NPM1 mutant acute myeloid leukemia predicted - sensitive MI-503 Preclinical - Cell line xenograft Actionable In a preclinical study, MI-503 inhibited growth of an acute myeloid leukemia cell line and primary AML samples harboring NPM1 mutations in culture, and reduced tumor burden and improved survival in an NPM1-mutant AML cell line xenograft model (PMID: 27535106). 27535106
NPM1 mutant FLT3 wild-type acute myeloid leukemia not applicable N/A Guideline Prognostic NPM1 mutations with FLT3 wild-type (no or low allelic ratio of ITD mutations) are associated with a favorable prognosis in patients with non-APL acute myeloid leukemia (NCCN.org). detail...
FLT3 exon 14 ins NPM1 mutant acute myeloid leukemia predicted - sensitive Ibrutinib Preclinical - Patient cell culture Actionable In a preclinical study, co-occurrence of FLT3-ITD and NPM1 mutations correlated with sensitivity to Imbruvica (ibrutinib) in patient-derived acute myeloid leukemia samples in an ex vivo assay (PMID: 30333627). 30333627
FLT3 exon 14 ins NPM1 mutant acute myeloid leukemia predicted - sensitive Sorafenib Preclinical - Patient cell culture Actionable In a preclinical study, co-occurrence of FLT3-ITD and NPM1 mutations correlated with sensitivity to Nexavar (sorafenib) in patient-derived acute myeloid leukemia samples in an ex vivo assay (PMID: 30333627). 30333627
FLT3 exon 14 ins NPM1 mutant leukemia predicted - sensitive MI-503 Preclinical Actionable In a preclinical study, MI-503 inhibited growth of murine leukemia cells expressing an NPM1 mutation and FLT3 internal tandem duplication in culture, and improved survival in mouse models (PMID: 27535106). 27535106
FLT3 exon 14 ins NPM1 mutant acute myeloid leukemia predicted - sensitive Sunitinib Preclinical - Patient cell culture Actionable In a preclinical study, co-occurrence of FLT3-ITD and NPM1 mutations correlated with sensitivity to Sutent (sunitinib) in patient-derived acute myeloid leukemia samples in an ex vivo assay (PMID: 30333627). 30333627
FLT3 exon 14 ins NPM1 mutant leukemia predicted - sensitive EPZ004777 Preclinical Actionable In a preclinical study, EPZ004777 inhibited growth and induced differentiation of murine leukemia cells expressing an NPM1 mutation and FLT3 internal tandem duplication in culture, and improved survival in mouse models (PMID: 27535106). 27535106
FLT3 exon 14 ins NPM1 mutant acute myeloid leukemia not applicable N/A Guideline Prognostic FLT3 exon 14 insertions (high allelic ratio of ITD mutations) with NPM1 mutations are associated with an intermediate prognosis in patients with non-APL acute myeloid leukemia (NCCN.org). detail...
FLT3 exon 14 ins NPM1 mutant acute myeloid leukemia predicted - sensitive Entospletinib Preclinical - Patient cell culture Actionable In a preclinical study, co-occurrence of FLT3-ITD and NPM1 mutations correlated with sensitivity to Entospletinib in patient-derived acute myeloid leukemia samples in an ex vivo assay (PMID: 30333627). 30333627
FLT3 exon 14 ins NPM1 mutant acute myeloid leukemia sensitive ENMD-2076 Phase I Actionable In a Phase I trial, two acute myeloid leukemia patients co-harboring a FLT3-ITD mutation and NPM1 mutation demonstrated anti-leukemia activity when treated with ENMD-2076 (PMID: 27406088). 27406088
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 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 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 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...
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 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