ArticleAmerican journal of hematology2019
The combination of NPM1, DNMT3A, and IDH1/2 mutations leads to inferior overall survival in AML.
Article in American journal of hematology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
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Who cites it
32 citing papers in PubMed, 62 citations in OpenAlex.
- IDH1 Mutations in Acute Myeloid Leukemia: Frequency and Clinical Features in the Context of FLT3 and NPM1 Co-Mutations-A Single-Center Study from Turkey.Current issues in molecular biology · 2026Article
- The impact of DNMT3A mutation on survival of AML patients receiving allotransplant in first remission depends on the karyotype and co-occurring mutations.Bone marrow transplantation · 2026Article
- Mutation Patterns Define Clinical Heterogeneity in Acute Myeloid Leukemia.Journal of Cancer · 2026Article
- Prognostic impact of co-mutations in adults withBlood science (Baltimore, Md.) · 2025Article
- Significance of targeting DNMT3A mutations in AML.Annals of hematology · 2025Review
- Carrier-Free Peptide-Daunorubicin-Small Interfering RNA Nanoassembly for Targeted Therapy of Acute Myeloid Leukemia.Cyborg and bionic systems (Washington, D.C.) · 2025Article
- Advances in DNA/RNA Sequencing and Their Applications in Acute Myeloid Leukemia (AML).International journal of molecular sciences · 2024Review
- Influence of genetic co-mutation on chemotherapeutic outcome in NPM1-mutated and FLT3-ITD wild-type AML patients.Cancer medicine · 2024Article
- Clinical prognostic value of different NPM1 mutations in acute myeloid leukemia patients.Annals of hematology · 2024Article
- Comprehensive insights into AML relapse: genetic mutations, clonal evolution, and clinical outcomes.Cancer cell international · 2024Article
- Co-occurring Mutations in Different Genes Can Fuel Oncogenic Signaling and Serve as Metastatic Tumor Markers.bioRxiv : the preprint server for biology · 2024Article
- Mutations highly specific for secondary AML are associated with poor outcomes in ELN favorable risk NPM1-mutated AML.Blood advances · 2024Article
- Characteristics and prognostic impact of IDH mutations in AML: a COG, SWOG, and ECOG analysis.Blood advances · 2023Article
- Prognostication refinement in NPM1-mutated acute myeloid leukemia stratified by FLT3-ITD status with different induction doses of cytarabine.Cancer medicine · 2023Article
- Clinical characteristics and prognostic significance of DNA methylation regulatory gene mutations in acute myeloid leukemia.Clinical epigenetics · 2023Article
- Current and Emerging Techniques for Diagnosis and MRD Detection in AML: A Comprehensive Narrative Review.Cancers · 2023Review
- Endogenous retroviruses Suppressyn and Syncytin-2 as innovative prognostic biomarkers in Acute Myeloid Leukemia.Frontiers in cellular and infection microbiology · 2023Article
- Combined heterozygosity of FLT3 ITD, TET2, and DNMT3A results in aggressive leukemia.JCI insight · 2022Article
- Article
- Single-Cell Sequencing: Ariadne's Thread in the Maze of Acute Myeloid Leukemia.Diagnostics (Basel, Switzerland) · 2022Review
Corrections and comments
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
Abstract
Acute myeloid leukemia (AML) is a genetically heterogeneous disease with a clinical course predicted by recurrent cytogenetic abnormalities and/or gene mutations. The NPM1 insertion mutations define the largest distinct genetic subset, ∼30% of AML, and is considered a favorable risk marker if there is no (or low allelic ratio) FLT3 internal tandem duplication (FLT3 ITD) mutation. However, ∼40% of patients with mutated NPM1 without FLT3 ITD still relapse, and the factors that drive relapse are still not fully understood. We used a next-generation sequencing panel to examine mutations at diagnosis; clearance of mutations after therapy, and gain/loss of mutations at relapse to prioritize mutations that contribute to relapse. Triple mutation of NPM1, DNMT3A and IDH1/2 showed a trend towards inferior overall survival in our discovery dataset, and was significantly associated with reduced OS in a large independent validation cohort. Analysis of relative variant allele frequencies suggests that early mutation and expansion of DNMT3A and IDH1/2 prior to acquisition of NPM1 mutation leads to increased risk of relapse. This subset of patients may benefit from allogeneic stem cell transplant or clinical trials with IDH inhibitors.
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