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Systematic review of somatic mutations in splenic marginal zone lymphoma

Systematic review of somatic mutations in splenic marginal zone lymphoma
Systematic review of somatic mutations in splenic marginal zone lymphoma
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.
2045-2322
1-9
Jaramillo Oquendo, Carolina
41b94f4b-3f6d-4d9d-9251-a5a1597a5766
Parker, Helen
33e0cd81-d45f-49bc-9539-09345d79d895
Oscier, David G.
c2620a1d-25bb-48f7-9651-f5d023636381
Ennis, Sarah
7b57f188-9d91-4beb-b217-09856146f1e9
Gibson, Jane
855033a6-38f3-4853-8f60-d7d4561226ae
Strefford, Jonathan
3782b392-f080-42bf-bdca-8aa5d6ca532f
Jaramillo Oquendo, Carolina
41b94f4b-3f6d-4d9d-9251-a5a1597a5766
Parker, Helen
33e0cd81-d45f-49bc-9539-09345d79d895
Oscier, David G.
c2620a1d-25bb-48f7-9651-f5d023636381
Ennis, Sarah
7b57f188-9d91-4beb-b217-09856146f1e9
Gibson, Jane
855033a6-38f3-4853-8f60-d7d4561226ae
Strefford, Jonathan
3782b392-f080-42bf-bdca-8aa5d6ca532f

Jaramillo Oquendo, Carolina, Parker, Helen, Oscier, David G., Ennis, Sarah, Gibson, Jane and Strefford, Jonathan (2019) Systematic review of somatic mutations in splenic marginal zone lymphoma. Scientific Reports, 9 (1), 1-9, [10444]. (doi:10.1038/s41598-019-46906-1).

Record type: Article

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.

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2019 Jaramillo Oquendo Systematic Review - Accepted Manuscript
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s41598-019-46906-1 - Version of Record
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More information

Accepted/In Press date: 4 July 2019
e-pub ahead of print date: 18 July 2019

Identifiers

Local EPrints ID: 432636
URI: http://eprints.soton.ac.uk/id/eprint/432636
ISSN: 2045-2322
PURE UUID: 7256f161-6bb6-4a00-80c4-899c9a6d53fa
ORCID for Helen Parker: ORCID iD orcid.org/0000-0001-8308-9781
ORCID for Sarah Ennis: ORCID iD orcid.org/0000-0003-2648-0869
ORCID for Jane Gibson: ORCID iD orcid.org/0000-0002-0973-8285
ORCID for Jonathan Strefford: ORCID iD orcid.org/0000-0002-0972-2881

Catalogue record

Date deposited: 22 Jul 2019 16:30
Last modified: 22 Nov 2021 02:51

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Contributors

Author: Carolina Jaramillo Oquendo
Author: Helen Parker ORCID iD
Author: David G. Oscier
Author: Sarah Ennis ORCID iD
Author: Jane Gibson ORCID iD

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