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...

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Autores principales:	Carolina Jaramillo Oquendo, Helen Parker, David Oscier, Sarah Ennis, Jane Gibson, Jonathan C. Strefford
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2019
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/2d610cba88b94e2e91f71dcb22c148ca
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spelling	oai:doaj.org-article:2d610cba88b94e2e91f71dcb22c148ca2021-12-02T15:08:59ZSystematic Review of Somatic Mutations in Splenic Marginal Zone Lymphoma10.1038/s41598-019-46906-12045-2322https://doaj.org/article/2d610cba88b94e2e91f71dcb22c148ca2019-07-01T00:00:00Zhttps://doi.org/10.1038/s41598-019-46906-1https://doaj.org/toc/2045-2322Abstract 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.Carolina Jaramillo OquendoHelen ParkerDavid OscierSarah EnnisJane GibsonJonathan C. StreffordNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 9, Iss 1, Pp 1-9 (2019)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Carolina Jaramillo Oquendo Helen Parker David Oscier Sarah Ennis Jane Gibson Jonathan C. Strefford Systematic Review of Somatic Mutations in Splenic Marginal Zone Lymphoma
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.
format	article
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
title	Systematic Review of Somatic Mutations in Splenic Marginal Zone Lymphoma
title_short	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_sort	systematic review of somatic mutations in splenic marginal zone lymphoma
publisher	Nature Portfolio
publishDate	2019
url	https://doaj.org/article/2d610cba88b94e2e91f71dcb22c148ca
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Systematic Review of Somatic Mutations in Splenic Marginal Zone Lymphoma

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