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• W2740984018 abstract "Splenic diffuse red pulp lymphoma is an indolent small B-cell lymphoma recognized as a provisional entity in the World Health Organization 2008 classification. Its precise relationship to other related splenic B-cell lymphomas with frequent leukemic involvement or other lymphoproliferative disorders remains undetermined. We performed whole-exome sequencing to explore the genetic landscape of ten cases of splenic diffuse red pulp lymphoma using paired tumor and normal samples. A selection of 109 somatic mutations was then evaluated in a cohort including 42 samples of splenic diffuse red pulp lymphoma and compared to those identified in 46 samples of splenic marginal zone lymphoma and eight samples of hairy-cell leukemia. Recurrent mutations or losses in BCOR (the gene encoding the BCL6 corepressor) – frameshift (n=3), nonsense (n=2), splicing site (n=1), and copy number loss (n=4) – were identified in 10/42 samples of splenic diffuse red pulp lymphoma (24%), whereas only one frameshift mutation was identified in 46 cases of splenic marginal zone lymphoma (2%). Inversely, KLF2, TNFAIP3 and MYD88, common mutations in splenic marginal zone lymphoma, were rare (one KLF2 mutant in 42 samples; 2%) or absent (TNFAIP3 and MYD88) in splenic diffuse red pulp lymphoma. These findings define an original genetic profile of splenic diffuse red pulp lymphoma and suggest that the mechanisms of pathogenesis of this lymphoma are distinct from those of splenic marginal zone lymphoma and hairy-cell leukemia." @default.
• W2740984018 created "2017-08-08" @default.
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• W2740984018 date "2017-07-27" @default.
• W2740984018 modified "2023-10-18" @default.
• W2740984018 title "Exome sequencing identifies recurrent <i>BCOR</i> alterations and the absence of <i>KLF2</i> , <i>TNFAIP3</i> and <i>MYD88</i> mutations in splenic diffuse red pulp small B-cell lymphoma" @default.
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• W2740984018 doi "https://doi.org/10.3324/haematol.2016.160192" @default.
• W2740984018 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/5622860" @default.
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