ArticleBlood2021
Novel NPM1 exon 5 mutations and gene fusions leading to aberrant cytoplasmic nucleophosmin in AML.
Article in Blood, 2021. 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, 53 citations in OpenAlex.
- Two Decades ofCancers · 2026Review
- NPM1-rearranged AML: clinical features, molecular pathogenesis, and therapeutic perspectives.International journal of hematology · 2026Review
- Concurrent NPM1::CCDC28A and BCR::ABL1 fusions in extramedullary blast crisis of chronic myeloid leukemia: A case report and literature review.Annals of hematology · 2025Review
- Article
- Effect of NPM1 Mutation Subtype and Co-Mutation Patterns on the Outcomes of Acute Myeloid Leukemia.European journal of haematology · 2025Article
- Review
- Review
- NPM1-fusion proteins promote myeloid leukemogenesis through XPO1-dependent HOX activation.Leukemia · 2025Article
- Recent advances in AML with mutated NPM1.International journal of hematology · 2024Review
- Characteristics and Prognosis of "Acute Promyelocytic Leukemia-like" Nucleophosmin-1-Mutated Acute Myeloid Leukemia in a Retrospective Patient Cohort.Biomedicines · 2024Article
- Common Driver Mutations in AML: Biological Impact, Clinical Considerations, and Treatment Strategies.Cells · 2024Review
- Article
- Mapping AML heterogeneity - multi-cohort transcriptomic analysis identifies novel clusters and divergent ex-vivo drug responses.Leukemia · 2024Article
- Panel-based RNA fusion sequencing improves diagnostics of pediatric acute myeloid leukemia.Leukemia · 2024Article
- A new genomic framework to categorize pediatric acute myeloid leukemia.Nature genetics · 2024Article
- Could Targeting NPM1c+ Misfolding Be a Promising Strategy for Combating Acute Myeloid Leukemia?International journal of molecular sciences · 2024Review
- Criteria for Diagnosis and Molecular Monitoring of NPM1-Mutated AML.Blood cancer discovery · 2024Review
- NPM3 as an Unfavorable Prognostic Biomarker Involved in Oncogenic Pathways of Lung AdenocarcinomaCombinatorial chemistry & high throughput screening · 2024Article
- Transcriptome analysis reveals a lncRNA-miRNA-mRNA regulatory network in OsRpp30-mediated disease resistance in rice.BMC genomics · 2023Article
- Identification of a novel NPM1 mutation in acute myeloid leukemia.Experimental hematology & oncology · 2023Article
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Authors and funding
32 authors at 7 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Nucleophosmin (NPM1) mutations in acute myeloid leukemia (AML) affect exon 12, but also sporadically affect exons 9 and 11, causing changes at the protein C-terminal end (tryptophan loss, nuclear export signal [NES] motif creation) that lead to aberrant cytoplasmic NPM1 (NPM1c+), detectable by immunohistochemistry. Combining immunohistochemistry and molecular analyses in 929 patients with AML, we found non-exon 12 NPM1 mutations in 5 (1.3%) of 387 NPM1c+ cases. Besides mutations in exons 9 (n = 1) and 11 (n = 1), novel exon 5 mutations were discovered (n = 3). Another exon 5 mutation was identified in an additional 141 patients with AML selected for wild-type NPM1 exon 12. Three NPM1 rearrangements (NPM1/RPP30, NPM1/SETBP1, NPM1/CCDC28A) were detected and characterized among 13 979 AML samples screened by cytogenetic/fluorescence in situ hybridization and RNA sequencing. Functional studies demonstrated that in AML cases, new NPM1 proteins harbored an efficient extra NES, either newly created or already present in the fusion partner, ensuring its cytoplasmic accumulation. Our findings support NPM1 cytoplasmic relocation as critical for leukemogenesis and reinforce the role of immunohistochemistry in predicting AML-associated NPM1 genetic lesions. This study highlights the need to develop new assays for molecular diagnosis and monitoring of NPM1-mutated AML.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.