Varaico: Literature-Extracted Genetic Variants

Gene:NPM1
Variant:p.L287_W288insFs
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NPM1

NM_002520.7:p.L287_W288insFs

Associated Papers

Single-cell profiling reveals reprogrammed hierarchy and disrupted immune-stromal ecosystem in TP53-mutated AML.

Qiu G et al.

Experimental Hematology & Oncology, 2026

41634865 (PubMed )
Supplement: 40164_2026_751_MOESM3_ESM.xlsx › Sheet1

Clonal architecture of FLT3-ITD and acquired 13q uniparental disomy define prognostic heterogeneity and therapeutic vulnerabilities in acute myeloid leukemia.

Lai A et al.

Neoplasia (new York, N.y.), 2025

41411742 (PubMed )
Supplement: mmc2.xlsx › Sheet1

Evaluation of Long-Read Genome Sequencing for Genomic Profiling of Myeloid Cancers.

Abel HJ et al.

The Journal of Molecular Diagnostics : Jmd, 2025

41016628 (PubMed )
Supplement: mmc14.xlsx › Sheet1

Proteomic subtypes enrich current acute myeloid leukemia nomenclature and reflect intrinsic pathogenesis alongside aging.

Cheng WY et al.

Blood, 2025

40829168 (PubMed )
Supplement: BLOOD_BLD-2024-027692-mmc5.xlsx › Sheet_1

Analysis and Interpretation of Somatic NMD-Escaping Variants in Oncogenes and Dual-Function Genes across Adult and Pediatric Cancer Cohorts.

Eldomery MK et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

41332868 (PubMed )
Supplement: media-6.xlsx › Sheet1

Validation of a Multiplex mRNA- and gDNA-Based Droplet Digital PCR Assay in Acute Myeloid Leukemia Patients with an NPM1 Mutation.

Wierenga ATJ et al.

Clinical Chemistry, 2025

Leveraging genomic diagnostics for prognostics and therapeutics in pediatric acute leukemia.

Newman H et al.

Hemasphere, 2025

41306327 (PubMed )
Supplement: HEM3-9-e70269-s013.xlsx › Supplemental_Table_5_-_SSVs

Integrated Genomic and Transcriptomic Profiling of Isolated Trisomies in AML Reveals Cell Cycle Dysregulation and Therapeutic Vulnerabilities.

Maués JHDS et al.

Journal of Cellular and Molecular Medicine, 2025

Identification of specific T-cell response and T-cell receptor targeting shared neoantigen for acute myeloid leukemia.

Zhou W et al.

Blood Cancer Journal, 2025

NPM1 Mutation Detected: Does Blast Count Matter?

Nikhil MK et al.

Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 2025

Detection of minimal residual disease in circulating cell-free DNA in acute myeloid leukemia.

Sommer C et al.

Scientific Reports, 2025

40987801 (PubMed )
Supplement: 41598_2025_20589_MOESM1_ESM.pdf

Myeloid sarcoma shows a high frequency of mutations activating the MAPK/ERK pathway and association with clonal hematopoiesis.

Nann D et al.

The Journal of Pathology. Clinical Research, 2025

40906433 (PubMed )
Supplement: CJP2-11-e70044-s001.pdf

Comparative outcome and prognostic factor analysis among MDS/AML patients with TP53 mutations, snps, and wild type.

Yang X et al.

Human Genomics, 2025

40877983 (PubMed )
Supplement: 40246_2025_792_MOESM2_ESM.xlsx › Table_S4

Prognostic significance of deep sequencing for analysis of measurable residual disease in acute myeloid leukemia with NPM1 mutation.

Johansson Alm S et al.

Leukemia & Lymphoma, 2025

Integrating Molecular Alterations with Immunophenotype and Clinical Characteristics in Myelodysplastic Syndromes: A Single-Center Study.

Majcherek M et al.

International Journal of Molecular Sciences, 2025

40806511 (PubMed )
Supplement: ijms-26-07382-s001.zip › ijms-3714525-supplementary.pdf

Functional cure with single agent olutasidenib in relapsed IDH1/NPM1 co-mutated AML.

Watts J et al.

Npj Precision Oncology, 2025

A Comprehensive Guide to Achieving New York State Clinical Laboratory Evaluation Program Approval for Next-Generation Sequencing Assays.

Galbo PM et al.

The Journal of Molecular Diagnostics : Jmd, 2025

40158885 (PubMed )
Supplement: mmc6.xlsx › Sheet1

From Sanger to Oxford Nanopore MinION Technology: The Impact of Third-Generation Sequencing on Genetic Hematological Diagnosis.

Larráyoz MJ et al.

Cancers, 2025

Low WT1 Expression Identifies a Subset of Acute Myeloid Leukemia with a Distinct Genotype.

Rondoni M et al.

Cancers, 2025

40227798 (PubMed )
Supplement: cancers-17-01213-s001.zip › cancers-3416916-supplementary.pdf

Chronic myelomonocytic leukemia with NPM1 mutation or acute myeloid leukemia?

Castaño-Díez S et al.

The Oncologist, 2025

Measurable residual mutated IDH1 before allogeneic transplant for acute myeloid leukemia.

Gui G et al.

Bone Marrow Transplantation, 2025

39506075 (PubMed )
Supplement: 41409_2024_2447_MOESM1_ESM.pdf

Emergence and Cytogenetic Clonal Evolution of Chromosome 7 Abnormalities in Myeloid Malignancies: Investigating the Role of Telomere Dysfunction.

Baldazzi C et al.

International Journal of Molecular Sciences, 2025

39940930 (PubMed )
Supplement: ijms-26-01162-s001.zip › Supplementary_Table_S1.xlsx › Supplementary_Table_1

Metabolic adaptations to acute glucose uptake inhibition converge upon mitochondrial respiration for leukemia cell survival.

Komza M et al.

Cell Communication and Signaling : Ccs, 2025

AML typical mutations (CEBPA, FLT3, NPM1) identify a high-risk chronic myelomonocytic leukemia independent of CPSS molecular.

Castaño-Díez S et al.

Blood Advances, 2025

39388660 (PubMed )
Supplement: BLOODA_ADV-2024-013648-mmc1.pdf

Error-corrected ultradeep next-generation sequencing for detection of clonal haematopoiesis and haematological neoplasms - sensitivity, specificity and accuracy.

Tursky ML et al.

Plos One, 2025

40009600 (PubMed )
Supplement: pone.0318300.s003.pdf

Mutated DNMT3A creates a public HLADQ- binding neoantigen on acute myeloid leukemia.

van der Lee DI et al.

Frontiers in Immunology, 2025

Real-world data on adult AML with FLT3-ITD mutation from the Thai acute leukemia working group.

Rattanathammethee T et al.

Frontiers in Oncology, 2025

Late-onset NPM1 mutation in a MYC-amplified relapsed/refractory acute myeloid leukemia patient treated with gemtuzumab ozogamicin and glasdegib.

Jaramillo S et al.

Haematologica, 2024

Mutation Patterns Predict Drug Sensitivity in Acute Myeloid Leukemia.

Qin G et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2024

38619278 (PubMed )
Supplement: ccr-23-1674_supplementary_table_s1-s14_suppts1.xlsx › TableS2_Var_AF0.01

Multi-target measurable residual disease assessed by error-corrected sequencing in patients with acute myeloid leukemia: An ALFA study.

Hirsch P et al.

Blood Cancer Journal, 2024

38871702 (PubMed )
Supplement: 41408_2024_1078_MOESM1_ESM.pdf

Establishment and validation of a gene mutation-based risk model for predicting prognosis and therapy response in acute myeloid leukemia.

Liu Y et al.

Heliyon, 2024

38831838 (PubMed )
Supplement: mmc3.xlsx › Sheet1

Unveiling the signaling network of FLT3-ITD AML improves drug sensitivity prediction.

Latini S et al.

Elife, 2024

38564252 (PubMed )
Supplement: elife-90532-supp9.xlsx › OncoKB_mutations

Diagnostic utility of immunohistochemistry in detection of NPM1 mutations in acute myeloid leukemia with a patchy distribution.

Wei Q et al.

Ejhaem, 2024

Infrequent Presentations of Chronic NPM1-Mutated Myeloid Neoplasms: Clinicopathological Features of Eight Cases from a Single Institution and Review of the Literature.

Castaño-Díez S et al.

Cancers, 2024

Targeting lysine demethylase 6B ameliorates ASXL1 truncation-mediated myeloid malignancies in preclinical models.

Ge G et al.

The Journal of Clinical Investigation, 2024

37917239 (PubMed )
Supplement: jci-134-163964-s174.pdf

Cutaneous Manifestations of Myeloid Neoplasms Exhibit Broad and Divergent Morphologic and Immunophenotypic Features but Share Ancestral Clonal Mutations With Bone Marrow.

Sadigh S et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2024

Imetelstat-mediated alterations in fatty acid metabolism to induce ferroptosis as a therapeutic strategy for acute myeloid leukemia.

Bruedigam C et al.

Nature Cancer, 2024

37904045 (PubMed )
Supplement: 43018_2023_653_MOESM22_ESM.xlsx › Extended_Data_Fig._9c_HemePACT

Detection of Hybrid Fusion Transcripts, Aberrant Transcript Expression, and Specific Single Nucleotide Variants in Acute Leukemia and Myeloid Disorders with Recurrent Gene Rearrangements.

Li Y et al.

Pathobiology : Journal of Immunopathology, Molecular and Cellular Biology, 2024

37490880 (PubMed )
Supplement: Supplementary_material-Suppl.9-s9.xlsx › Sheet1

Clinical characterization of the mutational landscape of 24,639 real-world samples from patients with myeloid malignancies.

Hogg G et al.

Cancer Genetics, 2023

The clinicopathologic significance of NPM1 mutation and ability to detect mutated NPM1 by immunohistochemistry in non-AML myeloid neoplasms.

Kaseb H et al.

Genes, Chromosomes & Cancer, 2023

Prevalence and clinical expression of germ line predisposition to myeloid neoplasms in adults with marrow hypocellularity.

Molteni E et al.

Blood, 2023

37216690 (PubMed )
Supplement: BLOOD_BLD-2022-019304-mmc1.pdf

Measurable Residual IDH1 before Allogeneic Transplant for Acute Myeloid Leukemia.

Gui G et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

37577695 (PubMed )
Supplement: media-1.pdf

Next-Generation Sequencing-Based Genomic Profiling of Children with Acute Myeloid Leukemia.

Krizsán S et al.

The Journal of Molecular Diagnostics : Jmd, 2023

37088137 (PubMed )
Supplement: mmc4.xlsx › Supplementary_Table_S4

Assessment of acute myeloid leukemia molecular measurable residual disease testing in an interlaboratory study.

Scott S et al.

Blood Advances, 2023

Understanding WT1 Alterations and Expression Profiles in Hematological Malignancies.

Niktoreh N et al.

Cancers, 2023

37444601 (PubMed )
Supplement: cancers-15-03491-s001.zip › cancers-2411712-supplementary.pdf

Hereditary acute myeloid leukemia associated with C-terminal CEBPA germline variants.

Harrigan AM et al.

Familial Cancer, 2023

RAB27B controls palmitoylation-dependent NRAS trafficking and signaling in myeloid leukemia.

Ren JG et al.

The Journal of Clinical Investigation, 2023

37317963 (PubMed )
Supplement: jci-133-165510-s058.xlsx › Sheet2
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."