Systematic Review of Somatic Mutations in Splenic Marginal Zone Lymphoma
Abstract The aims of this systematic review are to refine the catalogue of somatic variants in splenic marginal zone lymphoma (SMZL) and to provide a well-annotated, manually curated database of high-confidence somatic mutations to facilitate variant interpretation for further biological studies and...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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Nature Portfolio
2019-07-01
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| Series: | Scientific Reports |
| Online Access: | https://doi.org/10.1038/s41598-019-46906-1 |
| _version_ | 1818995990869311488 |
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| author | Carolina Jaramillo Oquendo Helen Parker David Oscier Sarah Ennis Jane Gibson Jonathan C. Strefford |
| author_facet | Carolina Jaramillo Oquendo Helen Parker David Oscier Sarah Ennis Jane Gibson Jonathan C. Strefford |
| author_sort | Carolina Jaramillo Oquendo |
| collection | DOAJ |
| description | Abstract The aims of this systematic review are to refine the catalogue of somatic variants in splenic marginal zone lymphoma (SMZL) and to provide a well-annotated, manually curated database of high-confidence somatic mutations to facilitate variant interpretation for further biological studies and future clinical implementation. Two independent reviewers systematically searched PubMed and Ovid in January 2019 and included studies that sequenced SMZL cases with confirmed diagnosis. The database included fourteen studies, comprising 2817 variants in over 1000 genes from 475 cases. We confirmed the high prevalence of NOTCH2, KLF2 and TP53 mutations and analysis of targeted genes further implicated TNFAIP3, KMT2D, and TRAF3 as recurrent targets of somatic mutation based on their high incidence across studies. The major limitations we encountered were the low number of patients with whole-genome, unbiased analysis and the relative sensitivities of differing sequencing approaches. Overall, we showed that there is little concordance between whole exome sequencing studies of SMZL. We strongly support the continuing unbiased analysis of the SMZL genome for mutations in all protein-coding genes and provide a valuable database resource to facilitate this endeavour that will ultimately improve our understanding of SMZL pathobiology. |
| first_indexed | 2024-12-20T21:22:38Z |
| format | Article |
| id | doaj.art-2d610cba88b94e2e91f71dcb22c148ca |
| institution | Directory Open Access Journal |
| issn | 2045-2322 |
| language | English |
| last_indexed | 2024-12-20T21:22:38Z |
| publishDate | 2019-07-01 |
| publisher | Nature Portfolio |
| record_format | Article |
| series | Scientific Reports |
| spelling | doaj.art-2d610cba88b94e2e91f71dcb22c148ca2022-12-21T19:26:13ZengNature PortfolioScientific Reports2045-23222019-07-01911910.1038/s41598-019-46906-1Systematic Review of Somatic Mutations in Splenic Marginal Zone LymphomaCarolina Jaramillo Oquendo0Helen Parker1David Oscier2Sarah Ennis3Jane Gibson4Jonathan C. Strefford5Genomic Informatics, Human Genetics and Genomic Medicine, Faculty of Medicine, University of SouthamptonCancer Sciences, Faculty of Medicine, University of SouthamptonDepartment of Haematology, Royal Bournemouth HospitalGenomic Informatics, Human Genetics and Genomic Medicine, Faculty of Medicine, University of SouthamptonCancer Sciences, Faculty of Medicine, University of SouthamptonCancer Sciences, Faculty of Medicine, University of SouthamptonAbstract The aims of this systematic review are to refine the catalogue of somatic variants in splenic marginal zone lymphoma (SMZL) and to provide a well-annotated, manually curated database of high-confidence somatic mutations to facilitate variant interpretation for further biological studies and future clinical implementation. Two independent reviewers systematically searched PubMed and Ovid in January 2019 and included studies that sequenced SMZL cases with confirmed diagnosis. The database included fourteen studies, comprising 2817 variants in over 1000 genes from 475 cases. We confirmed the high prevalence of NOTCH2, KLF2 and TP53 mutations and analysis of targeted genes further implicated TNFAIP3, KMT2D, and TRAF3 as recurrent targets of somatic mutation based on their high incidence across studies. The major limitations we encountered were the low number of patients with whole-genome, unbiased analysis and the relative sensitivities of differing sequencing approaches. Overall, we showed that there is little concordance between whole exome sequencing studies of SMZL. We strongly support the continuing unbiased analysis of the SMZL genome for mutations in all protein-coding genes and provide a valuable database resource to facilitate this endeavour that will ultimately improve our understanding of SMZL pathobiology.https://doi.org/10.1038/s41598-019-46906-1 |
| spellingShingle | Carolina Jaramillo Oquendo Helen Parker David Oscier Sarah Ennis Jane Gibson Jonathan C. Strefford Systematic Review of Somatic Mutations in Splenic Marginal Zone Lymphoma Scientific Reports |
| title | Systematic Review of Somatic Mutations in Splenic Marginal Zone Lymphoma |
| title_full | Systematic Review of Somatic Mutations in Splenic Marginal Zone Lymphoma |
| title_fullStr | Systematic Review of Somatic Mutations in Splenic Marginal Zone Lymphoma |
| title_full_unstemmed | Systematic Review of Somatic Mutations in Splenic Marginal Zone Lymphoma |
| title_short | Systematic Review of Somatic Mutations in Splenic Marginal Zone Lymphoma |
| title_sort | systematic review of somatic mutations in splenic marginal zone lymphoma |
| url | https://doi.org/10.1038/s41598-019-46906-1 |
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