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    BIOMARKER:

    NPM1 mutation

    i
    Other names: Nucleophosmin (Nucleolar Phosphoprotein B23, Numatrin), Testicular Tissue Protein Li 128, Nucleolar Protein NO38, Numatrin, NPM1, Nucleophosmin 1, Nucleophosmin/Nucleoplasmin Family, Member 1, Nucleolar Phosphoprotein B23
    Entrez ID:
    4869
    Related biomarkers:
    Expression
    Mutation
    Fusion
    Others
    Related tests:
    2d
    Response to Comment on: "Prognostic implications of myelodysplasia-related gene mutations in NPM1-mutated acute myeloid leukemia: a systematic review and meta-analysis". (PubMed, Haematologica)
    Not available.
    Retrospective data • Journal
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    NPM1 (Nucleophosmin 1)
    |
    NPM1 mutation
    2d
    Targeting the Menin-KMT2A Axis in Acute Leukemia: From Epigenetic Dependency to Clinical Translation. (PubMed, Eur J Haematol)
    We critically evaluate the preclinical and clinical development of menin inhibitors, including revumenib, ziftomenib, bleximinib, and icovamenib, summarizing efficacy signals in relapsed/refractory disease, safety profiles, and emerging resistance mechanisms. Special attention is given to combination strategies with venetoclax, FLT3 inhibitors, chemotherapy, and epigenetic agents, which aim to enhance response durability and mitigate resistance. Finally, we discuss ongoing clinical trials, unresolved challenges in patient selection and sequencing, and future directions for integrating menin inhibition into precision-based treatment paradigms for acute leukemia.
    Review • Journal
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    FLT3 (Fms-related tyrosine kinase 3) • NPM1 (Nucleophosmin 1) • KMT2A (Lysine Methyltransferase 2A) • NUP98 (Nucleoporin 98 And 96 Precursor 2) • MEIS1 (Meis Homeobox 1)
    |
    NPM1 mutation
    |
    Venclexta (venetoclax) • Revuforj (revumenib) • Komzifti (ziftomenib) • icovamenib (BMF-219)
    2d
    VERDI: Venetoclax + Azacitidine in Patients With Acute Myeloid Leukemia (clinicaltrials.gov)
    P2, N=29, Active, not recruiting, Grupo Cooperativo de Estudio y Tratamiento de las Leucemias Agudas y Mielodisplasias | Recruiting --> Active, not recruiting
    Enrollment closed
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    NPM1 (Nucleophosmin 1) • RUNX1 (RUNX Family Transcription Factor 1) • RUNX1T1 (RUNX1 Partner Transcriptional Co-Repressor 1)
    |
    NPM1 mutation
    |
    Venclexta (venetoclax) • azacitidine
    2d
    Efficacy and Safety of Lisafotoclax Plus Decitabine and Homoharringtonine in Venetoclax/Azacitidine Pretreated AML Patients (clinicaltrials.gov)
    P2, N=35, Not yet recruiting, Second Affiliated Hospital, School of Medicine, Zhejiang University
    New P2 trial
    |
    FLT3 (Fms-related tyrosine kinase 3) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • NPM1 (Nucleophosmin 1)
    |
    FLT3-ITD mutation • NPM1 mutation
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    Venclexta (venetoclax) • azacitidine • decitabine • Synribo (omacetaxine mepesuccinate)
    4d
    Digital PCR of CHIP and MR for MRD Monitoring After Allo-HSCT in AML (clinicaltrials.gov)
    P=N/A, N=100, Recruiting, Peking University People's Hospital
    New trial • Tumor mutational burden • Minimal residual disease
    |
    ABL1 (ABL proto-oncogene 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • NPM1 (Nucleophosmin 1) • JAK2 (Janus kinase 2) • RUNX1 (RUNX Family Transcription Factor 1) • SF3B1 (Splicing Factor 3b Subunit 1) • ASXL1 (ASXL Transcriptional Regulator 1) • KMT2A (Lysine Methyltransferase 2A) • TET2 (Tet Methylcytosine Dioxygenase 2) • SRSF2 (Serine and arginine rich splicing factor 2) • BCOR (BCL6 Corepressor) • NUP98 (Nucleoporin 98 And 96 Precursor 2) • U2AF1 (U2 Small Nuclear RNA Auxiliary Factor 1) • STAG2 (Stromal Antigen 2) • NSD1 (Nuclear Receptor Binding SET Domain Protein 1) • HOXA9 (Homeobox A9) • NUP214 (Nucleoporin 214) • FUS (FUS RNA Binding Protein) • ZRSR2 (Zinc Finger CCCH-Type, RNA Binding Motif And Serine/Arginine Rich 2)
    |
    NPM1 mutation • MLL rearrangement
    9d
    Do myelodysplasia-related gene mutations alter transplant decisions in NPM1-mutated acute myeloid leukemia? Comment on: "Prognostic implications of myelodysplasiarelated gene mutations in NPM1-mutated acute myeloid leukemia: a systematic review and meta-analysis". (PubMed, Haematologica)
    Not available.
    Retrospective data • Journal
    |
    NPM1 (Nucleophosmin 1)
    |
    NPM1 mutation
    9d
    Detection of IDH1, IDH2, and NPM1 Mutations in Acute Myeloid Leukemia by High-Resolution Melting Analysis in Comparison with Direct Sequencing and MRD Detection. (PubMed, J Blood Med)
    Regarding mutation detection in low amounts of extracted DNA, the relationship between Tm and the blast percentage is an advantageous characteristic of the HRM method. As shown in a previous study, the use of NPM1 and IDHs for the detection of Minimal Residual Disease (MRD) by HRM is a sensitive method.
    Journal
    |
    IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • NPM1 (Nucleophosmin 1)
    |
    IDH2 mutation • NPM1 mutation
    9d
    A novel PAAoptosis-inducing ERRα-targeting compound for combating hematopoietic and solid cancers. (PubMed, Cell Death Discov)
    Furthermore, PAMT-001 demonstrated potential for use in precision medicine, particularly for patients with chemotherapy-resistant and NPM1-mutated acute myeloid leukemia. PAMT-001 is a potent ERRα-targeting anticancer agent capable of inducing anticancer effects through pyroptosis, autophagic cell death, and apoptosis-a newly termed mechanism referred to as "PAAoptosis." It holds significant potential for the treatment of both hematological and solid cancers.
    Journal
    |
    NPM1 (Nucleophosmin 1) • ESRRA (Estrogen Related Receptor Alpha) • GSDME (Gasdermin E)
    |
    NPM1 mutation
    9d
    Revumenib in Combination With 7+3 + Midostaurin in AML (clinicaltrials.gov)
    P1, N=22, Recruiting, Richard Stone, MD | Trial completion date: Mar 2027 --> Mar 2028 | Trial primary completion date: Mar 2026 --> Mar 2027
    Trial completion date • Trial primary completion date
    |
    TP53 (Tumor protein P53) • FLT3 (Fms-related tyrosine kinase 3) • ABL1 (ABL proto-oncogene 1) • NPM1 (Nucleophosmin 1) • DNMT3A (DNA methyltransferase 1) • RUNX1 (RUNX Family Transcription Factor 1) • SF3B1 (Splicing Factor 3b Subunit 1) • ASXL1 (ASXL Transcriptional Regulator 1) • KMT2A (Lysine Methyltransferase 2A) • SRSF2 (Serine and arginine rich splicing factor 2) • CREBBP (CREB binding protein) • BCOR (BCL6 Corepressor) • U2AF1 (U2 Small Nuclear RNA Auxiliary Factor 1) • STAG2 (Stromal Antigen 2) • MECOM (MDS1 And EVI1 Complex Locus) • NUP214 (Nucleoporin 214) • GATA2 (GATA Binding Protein 2) • KAT6A (Lysine Acetyltransferase 6A) • ZRSR2 (Zinc Finger CCCH-Type, RNA Binding Motif And Serine/Arginine Rich 2)
    |
    TP53 mutation • FLT3-ITD mutation • NPM1 mutation • Chr del(5q)
    |
    midostaurin • daunorubicin • Revuforj (revumenib)
    10d
    REVEAL-ND NPM1: Study of Revumenib in Combination With Intensive Chemotherapy in Newly Diagnosed Acute Myeloid Leukemia (AML) With a NPM1 Mutation (clinicaltrials.gov)
    P3, N=468, Recruiting, Syndax Pharmaceuticals
    Trial initiation date
    |
    NPM1 (Nucleophosmin 1)
    |
    NPM1 mutation
    |
    cytarabine • Revuforj (revumenib)
    10d
    The interaction between NPMc+ and Orai1 induces abnormal calcium influx to facilitate leukemogenesis. (PubMed, FEBS J)
    These findings uncover a novel mechanism in which NPMc+ interacts with Orai1, disrupting calcium homeostasis and promoting AML progression. This presents a promising therapeutic strategy targeting the NPMc+/Orai1-mediated calcium imbalance in NPM1-mutated AML.
    Journal
    |
    NPM1 (Nucleophosmin 1)
    |
    NPM1 mutation