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Gene NPM1
Variant L287fs
Impact List frameshift
Protein Effect unknown
Gene Variant Descriptions NPM1 L287fs results in a change in the amino acid sequence of the Npm1 protein beginning at aa 287 of 294, likely resulting in premature truncation of the functional protein (UniProt.org). L287fs has been identified in the scientific literature (PMID: 29705980, PMID: 31048683), but has not been biochemically characterized and therefore, its effect on Npm1 protein function is unknown (PubMed, Apr 2020).
Associated Drug Resistance

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Transcript NM_002520
gDNA chr5:g.(171410538_171410539)
cDNA c.(859_858)
Protein p.L287fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_002520 chr5:g.(171410538_171410539) c.(859_858) p.L287fs RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
NPM1 exon12 acute myeloid leukemia sensitive Deguelin Preclinical Actionable In preclinical studies, deguelin treatment of an AML cell line harboring NPM1 exon12 mutation resulted in reduced levels of mutant Npm1 protein and induced differentiation of the cells (PMID: 25242579, PMID: 25348016). 25242579 25348016
NPM1 exon12 acute myeloid leukemia predicted - sensitive Ixazomib Case Reports/Case Series Actionable In a clinical study, Ixazomib (MLN9708) treatment resulted in significantly reduced peripheral blast cells in a NPMc+ (due to NPM1 exon 12 mutations) acute myeloid leukemia (AML) patient, and demonstrated selective toxicity towards NPMc+ AML cell lines in culture (PMID: 26634271). 26634271
NPM1 exon12 acute myeloid leukemia sensitive Ixazomib + Vorinostat Preclinical - Cell culture Actionable In a preclinical study, Ixazomib (MLN9708) and Zolinza (vorinostat) synergistically induced apoptosis in NPMc+ (due to NPM1 exon 12 mutations) acute myeloid leukemia cells in culture (PMID: 26634271). 26634271
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 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 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 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 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 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 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 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 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
Molecular Profile Protein Effect Treatment Approaches
NPM1 L287fs unknown