ArticleBlood cancer journal2013
Novel somatic mutations in large granular lymphocytic leukemia affecting the STAT-pathway and T-cell activation.
Article in Blood cancer journal, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers.
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Who cites it
35 citing papers in PubMed, 63 citations in OpenAlex.
- Vitamin D Deficiency in Leukemia: Implications for Pathophysiology, Treatment, and Supportive Care.Nutrients · 2026Review
- Diagnostic criteria for NK cell large granular lymphocyte leukemia: validation through a multicentric international study.Blood advances · 2026Article
- Application of methylation in the diagnosis of ankylosing spondylitis.Clinical rheumatology · 2024Review
- Gamma-delta T-cell large granular lymphocytic leukemia in the setting of rheumatologic diseases.Frontiers in cell and developmental biology · 2024Article
- Transient Leukemoid Reaction from T-Cell Large Granular Lymphocytes Post Autologous Stem Cell Transplant in a Patient Affected by Hodgkin Lymphoma.Hematology reports · 2023Article
- STAT3 Role in T-Cell Memory Formation.International journal of molecular sciences · 2022Review
- Persistent Large Granular Lymphocyte Clonal Expansions: "The Root of Many Evils"-And of Some Goodness.Cancers · 2022Review
- Intersection Between Large Granular Lymphocyte Leukemia and Rheumatoid Arthritis.Frontiers in oncology · 2022Review
- Toward a Better Classification System for NK-LGL Disorders.Frontiers in oncology · 2022Review
- Review
- Germline STAT3 gain-of-function mutations in primary immunodeficiency: Impact on the cellular and clinical phenotype.Biomedical journal · 2021Review
- Concurrence of Myelodysplastic syndromes and large granular lymphocyte leukemia: clinicopathological features, mutational profile and gene ontology analysis in a single center.American journal of cancer research · 2021Article
- Article
- Large granular lymphocyte leukemia serum and corresponding hematological parameters reveal unique cytokine and sphingolipid biomarkers and associations with STAT3 mutations.Cancer medicine · 2020Article
- Advances in the Diagnosis and Treatment of Large Granular Lymphocytic Leukemia.Current hematologic malignancy reports · 2020Review
- Large granular lymphocytic leukaemia after solid organ and haematopoietic stem cell transplantation.British journal of haematology · 2020Article
- Article
- Insights Into Genetic Landscape of Large Granular Lymphocyte Leukemia.Frontiers in oncology · 2020Review
- Genomics of LGL leukemia and select other rare leukemia/lymphomas.Best practice & research. Clinical haematology · 2019Review
- Article
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Authors and funding
13 authors at 5 institutions in 2 countries.
Funding
Abstract
T-cell large granular lymphocytic (T-LGL) leukemia is a clonal disease characterized by the expansion of mature CD3+CD8+ cytotoxic T cells. It is often associated with autoimmune disorders and immune-mediated cytopenias. Our recent findings suggest that up to 40% of T-LGL patients harbor mutations in the STAT3 gene, whereas STAT5 mutations are present in 2% of patients. In order to identify putative disease-causing genetic alterations in the remaining T-LGL patients, we performed exome sequencing from three STAT mutation-negative patients and validated the findings in 113 large granular lymphocytic (LGL) leukemia patients. On average, 11 CD8+ LGL leukemia cell-specific high-confidence nonsynonymous somatic mutations were discovered in each patient. Interestingly, all patients had at least one mutation that affects either directly the STAT3-pathway (such as PTPRT) or T-cell activation (BCL11B, SLIT2 and NRP1). In all three patients, the STAT3 pathway was activated when studied by RNA expression or pSTAT3 analysis. Screening of the remaining 113 LGL leukemia patients did not reveal additional patients with same mutations. These novel mutations are potentially biologically relevant and represent rare genetic triggers for T-LGL leukemia, and are associated with similar disease phenotype as observed in patients with mutations in the STAT3 gene.
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Registered trials
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.