Varaico: Literature-Extracted Genetic Variants

Gene:NPM1
Variant:p.W288insFs
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NPM1

NM_002520.7:p.W288insFs

Associated Papers

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

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

Uncommon Evolution From Acute Myeloid Leukaemia to JAK2-Mutated Myeloproliferative Neoplasm: Evidence of Clonal Persistence and Divergence From TET2/SRSF2-Mutated Haematopoietic Progenitors.

Turingan MA et al.

Ejhaem, 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

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

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

Larráyoz MJ et al.

Cancers, 2025

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

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

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

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

Standardization of Molecular MRD Levels in AML Using an Integral Vector Bearing ABL and the Mutation of Interest.

Nachmias B et al.

Cancers, 2023

38001621 (PubMed )
Supplement: cancers-15-05360-s001.zip › cancers-2684400-supplementary.pdf

Deep genomic characterization highlights complexities and prognostic markers of pediatric acute myeloid leukemia.

Cheng CK et al.

Communications Biology, 2023

37002311 (PubMed )
Supplement: 42003_2023_4732_MOESM5_ESM.xlsx › Supplementary_Data_2

Transcriptome-based molecular subtypes and differentiation hierarchies improve the classification framework of acute myeloid leukemia.

Cheng WY et al.

Proceedings of the National Academy of Sciences of the United States of America, 2022

36442087 (PubMed )
Supplement: pnas.2211429119.sd02.xlsx › snv_indel

Compartment-specific mutational landscape of clonal hematopoiesis.

Hartmann L et al.

Leukemia, 2022

36131041 (PubMed )
Supplement: 41375_2022_1700_MOESM1_ESM.pdf

Lenalidomide promotes the development of TP53-mutated therapy-related myeloid neoplasms.

Sperling AS et al.

Blood, 2022

35512188 (PubMed )
Supplement: BLOOD_BLD-2021-014956-mmc1.pdf

Genomic landscape of patients with FLT3-mutated acute myeloid leukemia (AML) treated within the CALGB 10603/RATIFY trial.

Jahn N et al.

Leukemia, 2022

35922444 (PubMed )
Supplement: 41375_2022_1650_MOESM2_ESM.xlsx › NGS_dataset

RUNX1 mutations contribute to the progression of MDS due to disruption of antitumor cellular defense: a study on patients with lower-risk MDS.

Kaisrlikova M et al.

Leukemia, 2022

35505182 (PubMed )
Supplement: 41375_2022_1584_MOESM2_ESM.xlsx › Mutations_214_LR-MDS

Pathophysiologic and clinical implications of molecular profiles resultant from deletion 5q.

Adema V et al.

Ebiomedicine, 2022

35617825 (PubMed )
Supplement: mmc3.xlsx › Suppl_Table_3

Molecular heterogeneity and measurable residual disease of rare NPM1 mutations in acute myeloid leukemia: a nationwide experience from the GBMHM study group.

Fournier E et al.

Leukemia, 2022

Single cell proteogenomic sequencing identifies a relapse-fated AML subclone carrying FLT3-ITD with CN-LOH at chr13q.

Kim T et al.

Ejhaem, 2022

35846029 (PubMed )
Supplement: JHA2-3-426-s005.xlsx › Table_S5

NPM1 gene mutations can be confidently identified in blood DNA months before de novo AML onset.

Quiros PM et al.

Blood Advances, 2022

SmMIP-tools: a computational toolset for processing and analysis of single-molecule molecular inversion probes-derived data.

Medeiros JJF et al.

Bioinformatics (oxford, England), 2022

35150236 (PubMed )
Supplement: btac081_supplementary_data.zip › Table_S4.xlsx › Clinically_reported_Indels

Comprehensive analysis of genetic factors predicting overall survival in Myelodysplastic syndromes.

Maurya N et al.

Scientific Reports, 2022

35396491 (PubMed )
Supplement: 41598_2022_9864_MOESM9_ESM.xlsx › Sheet1

CPX-351 induces remission in newly diagnosed pediatric secondary myeloid malignancies.

Hu Y et al.

Blood Advances, 2022

34710216 (PubMed )
Supplement: advancesADV2021006139-suppl1.pdf

Networking for advanced molecular diagnosis in acute myeloid leukemia patients is possible: the PETHEMA NGS-AML project

Sargas C et al.

Haematologica, 2021

Clinical significance of chromatin-spliceosome acute myeloid leukemia: a report from the Northern Italy Leukemia Group (NILG) randomized trial 02/06.

Caprioli C et al.

Haematologica, 2021

32855275 (PubMed )
Supplement: 2020_252825_CAPRIOLI_SUPPL.pdf

Delineation of Molecular Lesions in Acute Myeloid Leukemia Patients at Diagnosis: Integrated Next Generation Sequencing and Cytogenomic Studies.

Papuc SM et al.

Genes, 2021

34070898 (PubMed )
Supplement: genes-12-00846-s001.zip › genes-1225535-supplementary.xlsx › Sheet1

The Mutational Landscape of Acute Myeloid Leukaemia Predicts Responses and Outcomes in Elderly Patients from the PETHEMA-FLUGAZA Phase 3 Clinical Trial.

Ayala R et al.

Cancers, 2021

34070172 (PubMed )
Supplement: cancers-13-02458-s001.zip › cancers-1203671-supplementary › Table_S8.xlsx › Hoja2

Archival bone marrow smears are useful in targeted next-generation sequencing for diagnosing myeloid neoplasms.

Sadato D et al.

Plos One, 2021

Analytical and Potential Clinical Performance of Oncomine Myeloid Research Assay for Myeloid Neoplasms.

Park J et al.

Molecular Diagnosis & Therapy, 2020

Prevalence and clinical implications of germline predisposition gene mutations in patients with acute myeloid leukemia.

Kim B et al.

Scientific Reports, 2020

32868804 (PubMed )
Supplement: 41598_2020_71386_MOESM1_ESM.pdf

SET Domain Containing 2 Deficiency in Myelodysplastic Syndrome.

Li J et al.

Frontiers in Genetics, 2020

32849799 (PubMed )
Supplement: Presentation_1.pdf

Experiences with Next-Generation Sequencing in Relapsed Acute Myeloid Leukemia: A Patient Case Series.

Flach J et al.

Mediterranean Journal of Hematology and Infectious Diseases, 2020

Molecular roulette: nucleophosmin mutations in AML are orchestrated through N-nucleotide addition by TdT.

Borrow J et al.

Blood, 2019

Nanopore Targeted Sequencing for Rapid Gene Mutations Detection in Acute Myeloid Leukemia.

Cumbo C et al.

Genes, 2019

Gene mutation profile and risk stratification in AML1‑ETO‑positive acute myeloid leukemia based on next‑generation sequencing.

Yu G et al.

Oncology Reports, 2019

31638252 (PubMed )
Supplement: Supplementary_Data.pdf

Clinical Validation and Implementation of a Measurable Residual Disease Assay for NPM1 in Acute Myeloid Leukemia by Error-Corrected Next-Generation Sequencing.

Ritterhouse LL et al.

Molecular Diagnosis & Therapy, 2019

Identification of Circulating Genomic and Metabolic Biomarkers in Intrahepatic Cholangiocarcinoma.

Winter H et al.

Cancers, 2019

31795195 (PubMed )
Supplement: cancers-11-01895-s001.zip › ICC_ctDNA_Cancers_Supplementary_Table_5._50_cancer_gene_panel_information.xlsx › cms_106003

Next-Generation Sequencing Improves Diagnosis, Prognosis and Clinical Management of Myeloid Neoplasms.

Carbonell D et al.

Cancers, 2019

31540291 (PubMed )
Supplement: cancers-11-01364-s001.zip › cancers-588721-SI.pdf

Identification of FLT3 and NPM1 Mutations in Patients with Acute Myeloid Leukaemia.

Mat Yusoff Y et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2019

Ultra-Rapid Reporting of GENomic Targets (URGENTseq): Clinical Next-Generation Sequencing Results within 48 Hours of Sample Collection.

Patel KP et al.

The Journal of Molecular Diagnostics : Jmd, 2019

Targeted next generation sequencing can serve as an alternative to conventional tests in myeloid neoplasms.

Kim B et al.

Plos One, 2019

30840646 (PubMed )
Supplement: pone.0212228.s004.pdf

The assessment of minimal residual disease versus that of somatic mutations for predicting the outcome of acute myeloid leukemia patients.

Salehzadeh S et al.

Cancer Cell International, 2019

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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."