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Whole exome sequencing of microdissected splenic marginal zone lymphoma: a study to discover novel tumor-specific mutations

Overview of attention for article published in BMC Cancer, October 2015
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Title
Whole exome sequencing of microdissected splenic marginal zone lymphoma: a study to discover novel tumor-specific mutations
Published in
BMC Cancer, October 2015
DOI 10.1186/s12885-015-1766-z
Pubmed ID
Authors

Jan Peveling-Oberhag, Franziska Wolters, Claudia Döring, Dirk Walter, Ludger Sellmann, René Scholtysik, Marco Lucioni, Max Schubach, Marco Paulli, Saskia Biskup, Stefan Zeuzem, Ralf Küppers, Martin-Leo Hansmann

Abstract

Splenic 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. We 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. Overall, 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. In 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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Mendeley readers

The data shown below were compiled from readership statistics for 35 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 35 100%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 11 31%
Researcher 8 23%
Student > Bachelor 3 9%
Other 2 6%
Student > Master 2 6%
Other 4 11%
Unknown 5 14%
Readers by discipline Count As %
Medicine and Dentistry 14 40%
Biochemistry, Genetics and Molecular Biology 6 17%
Agricultural and Biological Sciences 4 11%
Nursing and Health Professions 1 3%
Computer Science 1 3%
Other 3 9%
Unknown 6 17%