ArticleBMC cancer2015
Whole exome sequencing of microdissected splenic marginal zone lymphoma: a study to discover novel tumor-specific mutations.
Article in BMC cancer, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 2 of them syntheses that pooled it.
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Who cites it
21 citing papers in PubMed, 2 syntheses or guidelines pooled it, 35 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
- 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
- New Insights into the Biology and Diagnosis of Splenic Marginal Zone Lymphomas.Current oncology (Toronto, Ont.) · 2021Review
- Review
- The SMYD family proteins in immunology: An update of their obvious and non-obvious relations with the immune system.Heliyon · 2021Review
- Comprehensive Analysis of the Value of SMYD Family Members in the Prognosis and Immune Infiltration of Malignant Digestive System Tumors.Frontiers in genetics · 2021Article
- Article
- Pathogenic and Therapeutic Role of H3K4 Family of Methylases and Demethylases in Cancers.Indian journal of clinical biochemistry : IJCB · 2019Review
- High-throughput sequencing of nodal marginal zone lymphomas identifies recurrent BRAF mutations.Leukemia · 2018Article
- Deciphering splenic marginal zone lymphoma pathogenesis: the proposed role of microRNA.Oncotarget · 2018Review
- Marginal Zone Lymphoma: Clinicopathologic Variations and Approaches to Therapy.Current oncology reports · 2018Review
- Recent advances in understanding the biology of marginal zone lymphoma.F1000Research · 2018Review
- Flow cytometric sorting coupled with exon capture sequencing identifies somatic mutations in archival lymphoma tissues.Laboratory investigation; a journal of technical methods and pathology · 2017Article
- Exome sequencing analysis of murine medulloblastoma models identifies WDR11 as a potential tumor suppressor in Group 3 tumors.Oncotarget · 2017Article
- Clinical Impact of the 2016 Update to the WHO Lymphoma Classification.Current treatment options in oncology · 2017Review
- Recurrent somatic mutations affecting B-cell receptor signaling pathway genes in follicular lymphoma.Blood · 2017Article
- [Advances in molecular genetics pathogenesis of splenic marginal zone lymphoma].Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi · 2016Article
- New developments in the pathology of malignant lymphoma. A review of the literature published from September 2015-December 2015.Journal of hematopathology · 2016Review
- Murine Models of Splenic Marginal Zone Lymphoma: A Role forFrontiers in oncology · 2016Review
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Authors and funding
13 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundSplenic marginal zone lymphoma (SMZL) is an indolent B-cell non-Hodgkin lymphoma and represents the most common primary malignancy of the spleen. Its precise molecular pathogenesis is still unknown and specific molecular markers for diagnosis or possible targets for causal therapies are lacking.
methodsWe performed whole exome sequencing (WES) and copy number analysis from laser-microdissected tumor cells of two primary SMZL discovery cases. Selected somatic single nucleotide variants (SNVs) were analyzed using pyrosequencing and Sanger sequencing in an independent validation cohort.
resultsOverall, 25 nonsynonymous somatic SNVs were identified, including known mutations in the NOTCH2 and MYD88 genes. Twenty-three of the mutations have not been associated with SMZL before. Many of these seem to be subclonal. Screening of 24 additional SMZL for mutations at the same positions found mutated in the WES approach revealed no recurrence of mutations for ZNF608 and PDE10A, whereas the MYD88 L265P missense mutation was identified in 15% of cases. An analysis of the NOTCH2 PEST domain and the whole coding region of the transcription factor SMYD1 in eight cases identified no additional case with a NOTCH2 mutation, but two additional cases with SMYD1 alterations.
conclusionsIn this first WES approach from microdissected SMZL tissue we confirmed known mutations and discovered new somatic variants. Recurrence of MYD88 mutations in SMZL was validated, but NOTCH2 PEST domain mutations were relatively rare (10 % of cases). Recurrent mutations in the transcription factor SMYD1 have not been described in SMZL before and warrant further investigation.
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