Trial reportPloS one2013
Whole exome sequencing identifies novel recurrently mutated genes in patients with splenic marginal zone lymphoma.
Trial report in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 45 papers, 2 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
45 citing papers in PubMed, 2 syntheses or guidelines pooled it, 102 citations in OpenAlex.
- Mutational landscape of marginal zone B-cell lymphomas of various origin: organotypic alterations and diagnostic potential for assignment of organ origin.Virchows Archiv : an international journal of pathology · 2022Pooled it
- Systematic Review of Somatic Mutations in Splenic Marginal Zone Lymphoma.Scientific reports · 2019Pooled it
- STAT3 mutations in natural killer cells are associated with cytopenia in patients with chronic lymphoproliferative disorder of natural killer cells.International journal of hematology · 2019Trial
- Integrated multiomic profiling reveals 2 distinct splenic marginal zone lymphoma subgroups with prognostic relevance.Blood advances · 2026Article
- Article
- Research on the role and mechanism of FAT4 in the development and progression of tumor and non-tumor diseases.Discover oncology · 2026Review
- Expanding the Spectrum of Canine Diffuse Large B-Cell Lymphoma Genetic Aberrations Through Whole Genome Sequencing Analysis.Veterinary and comparative oncology · 2025Article
- The genomic and molecular landscape of splenic marginal zone lymphoma, biological and clinical implications.Exploration of targeted anti-tumor therapy · 2024Review
- Identification of FAT4 as a positive prognostic biomarker in DLBCL by comprehensive genomic analysis.Clinical and experimental medicine · 2023Article
- The many faces of nodal and splenic marginal zone lymphomas. A report of the 2022 EA4HP/SH lymphoma workshop.Virchows Archiv : an international journal of pathology · 2023Review
- Pan-cancer analysis identifies SPEN mutation as a predictive biomarker with the efficacy of immunotherapy.BMC cancer · 2023Article
- Unraveling the genetics of transformed splenic marginal zone lymphoma.Blood advances · 2023Article
- First description of the t(3;17)(q27;q21)/IGF2BP2::LSM12 translocation in marginal zone lymphoma.Blood advances · 2023Article
- Uncovering novel mutational signatures byCell genomics · 2022Article
- Article
- Longitudinal analyses of CLL in mice identify leukemia-related clonal changes including a Myc gain predicting poor outcome in patients.Leukemia · 2022Article
- Frequent mutations of FBXO11 highlight BCL6 as a therapeutic target in Burkitt lymphoma.Blood advances · 2021Article
- New Insights into the Biology and Diagnosis of Splenic Marginal Zone Lymphomas.Current oncology (Toronto, Ont.) · 2021Review
- Molecular subtype identification and prognosis stratification by a metabolism-related gene expression signature in colorectal cancer.Journal of translational medicine · 2021Article
- Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
12 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The pathogenesis of splenic marginal zone lymphoma (SMZL) remains largely unknown. Recent high-throughput sequencing studies have identified recurrent mutations in key pathways, most notably NOTCH2 mutations in >25% of patients. These studies are based on small, heterogeneous discovery cohorts, and therefore only captured a fraction of the lesions present in the SMZL genome. To identify further novel pathogenic mutations within related biochemical pathways, we applied whole exome sequencing (WES) and copy number (CN) analysis to a biologically and clinically homogeneous cohort of seven SMZL patients with 7q abnormalities and IGHV1-2*04 gene usage. We identified 173 somatic non-silent variants, affecting 160 distinct genes. In additional to providing independent validation of the presence of mutation in several previously reported genes (NOTCH2, TNFAIP3, MAP3K14, MLL2 and SPEN), our study defined eight additional recurrently mutated genes in SMZL; these genes are CREBBP, CBFA2T3, AMOTL1, FAT4, FBXO11, PLA2G4D, TRRAP and USH2A. By integrating our WES and CN data we identified three mutated putative candidate genes targeted by 7q deletions (CUL1, EZH2 and FLNC), with FLNC positioned within the well-characterized 7q minimally deleted region. Taken together, this work expands the reported directory of recurrently mutated cancer genes in this disease, thereby expanding our understanding of SMZL pathogenesis. Ultimately, this work will help to establish a stratified approach to care including the possibility of targeted therapy.
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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.