ArticleBlood cancer journal2020
A high definition picture of somatic mutations in chronic lymphoproliferative disorder of natural killer cells.
Article in Blood cancer journal, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 36 citations in OpenAlex.
- Gene Expression, Non-Coding RNA, and Circular RNA Alterations in Patients with T-Prolymphocytic Leukemia.Cancers · 2026Article
- Diagnostic criteria for NK cell large granular lymphocyte leukemia: validation through a multicentric international study.Blood advances · 2026Article
- Regulation of H3K4me3 breadth and MYC expression by the SETD1B catalytic domain in MLL-rearranged leukemia.Leukemia · 2025Article
- NK-type large granular lymphocyte leukemia comes of age.HemaSphere · 2025Review
- Models for T-large granular lymphocytic leukemia: how to mimic the cellular interplays in malignant autoimmunity.Leukemia · 2025Review
- Classification of NK-large granular lymphocytic leukemia by CD56 expression.The oncologist · 2025Article
- Proteasome Inhibitors Induce Apoptosis in Ex Vivo Cells of T-Cell Prolymphocytic Leukemia.International journal of molecular sciences · 2024Article
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- Pro-inflammatory cells sustain leukemic clonal expansion in T-cell large granular lymphocyte leukemia.Haematologica · 2024Article
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- CCL22 mutations drive natural killer cell lymphoproliferative disease by deregulating microenvironmental crosstalk.Nature genetics · 2022Article
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- Toward a Better Classification System for NK-LGL Disorders.Frontiers in oncology · 2022Review
- Cytokines in the Pathogenesis of Large Granular Lymphocytic Leukemia.Frontiers in oncology · 2022Review
- Comprehensive Analysis and Summary of the Value of Immunophenotypes of Mature NK Cell Tumors for Differential Diagnosis, Treatment, and Prognosis.Frontiers in immunology · 2022Article
- The Multifaceted Role of STAT3 in NK-Cell Tumor Surveillance.Frontiers in immunology · 2022Review
- STAT3 activation in large granular lymphocyte leukemia is associated with cytokine signaling and DNA hypermethylation.Leukemia · 2021Article
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Corrections and comments
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Authors and funding
14 authors at 2 institutions in 2 countries.
Funding
Abstract
The molecular pathogenesis of chronic lymphoproliferative disorder of natural killer (NK) cells (CLPD-NK) is poorly understood. Following the screening of 57 CLPD-NK patients, only five presented STAT3 mutations. WES profiling of 13 cases negative for STAT3/STAT5B mutations uncovered an average of 18 clonal, population rare and deleterious somatic variants per patient. The mutational landscape of CLPD-NK showed that most patients carry a heavy mutational burden, with major and subclonal deleterious mutations co-existing in the leukemic clone. Somatic mutations hit genes wired to cancer proliferation, survival, and migration pathways, in the first place Ras/MAPK, PI3K-AKT, in addition to JAK/STAT (PIK3R1 and PTK2). We confirmed variants with putative driver role of MAP10, MPZL1, RPS6KA1, SETD1B, TAOK2, TMEM127, and TNFRSF1A genes, and of genes linked to viral infections (DDX3X and RSF1) and DNA repair (PAXIP1). A truncating mutation of the epigenetic regulator TET2 and a variant likely abrogating PIK3R1-negative regulatory activity were validated. This study significantly furthered the view of the genes and pathways involved in CLPD-NK, indicated similarities with aggressive diseases of NK cells and detected mutated genes targetable by approved drugs, being a step forward to personalized precision medicine for CLPD-NK patients.
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