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Exome sequencing identifies recurrent BCOR alterations and the absence of KLF2, TNFAIP3 and MYD88 mutations in splenic diffuse red pulp small B-cell lymphoma

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...

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Autores principales: Jallades, Laurent, Baseggio, Lucile, Sujobert, Pierre, Huet, Sarah, Chabane, Kaddour, Callet-Bauchu, Evelyne, Verney, Aurélie, Hayette, Sandrine, Desvignes, Jean-Pierre, Salgado, David, Levy, Nicolas, Béroud, Christophe, Felman, Pascale, Berger, Françoise, Magaud, Jean-Pierre, Genestier, Laurent, Salles, Gilles, Traverse-Glehen, Alexandra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Ferrata Storti Foundation 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5622860/
https://www.ncbi.nlm.nih.gov/pubmed/28751561
http://dx.doi.org/10.3324/haematol.2016.160192
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author Jallades, Laurent
Baseggio, Lucile
Sujobert, Pierre
Huet, Sarah
Chabane, Kaddour
Callet-Bauchu, Evelyne
Verney, Aurélie
Hayette, Sandrine
Desvignes, Jean-Pierre
Salgado, David
Levy, Nicolas
Béroud, Christophe
Felman, Pascale
Berger, Françoise
Magaud, Jean-Pierre
Genestier, Laurent
Salles, Gilles
Traverse-Glehen, Alexandra
author_facet Jallades, Laurent
Baseggio, Lucile
Sujobert, Pierre
Huet, Sarah
Chabane, Kaddour
Callet-Bauchu, Evelyne
Verney, Aurélie
Hayette, Sandrine
Desvignes, Jean-Pierre
Salgado, David
Levy, Nicolas
Béroud, Christophe
Felman, Pascale
Berger, Françoise
Magaud, Jean-Pierre
Genestier, Laurent
Salles, Gilles
Traverse-Glehen, Alexandra
author_sort Jallades, Laurent
collection PubMed
description 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.
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spelling pubmed-56228602017-10-10 Exome sequencing identifies recurrent BCOR alterations and the absence of KLF2, TNFAIP3 and MYD88 mutations in splenic diffuse red pulp small B-cell lymphoma Jallades, Laurent Baseggio, Lucile Sujobert, Pierre Huet, Sarah Chabane, Kaddour Callet-Bauchu, Evelyne Verney, Aurélie Hayette, Sandrine Desvignes, Jean-Pierre Salgado, David Levy, Nicolas Béroud, Christophe Felman, Pascale Berger, Françoise Magaud, Jean-Pierre Genestier, Laurent Salles, Gilles Traverse-Glehen, Alexandra Haematologica Article 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. Ferrata Storti Foundation 2017-10 /pmc/articles/PMC5622860/ /pubmed/28751561 http://dx.doi.org/10.3324/haematol.2016.160192 Text en Copyright© 2017 Ferrata Storti Foundation Material published in Haematologica is covered by copyright. All rights are reserved to the Ferrata Storti Foundation. Use of published material is allowed under the following terms and conditions: https://creativecommons.org/licenses/by-nc/4.0/legalcode. Copies of published material are allowed for personal or internal use. Sharing published material for non-commercial purposes is subject to the following conditions: https://creativecommons.org/licenses/by-nc/4.0/legalcode, sect. 3. Reproducing and sharing published material for commercial purposes is not allowed without permission in writing from the publisher.
spellingShingle Article
Jallades, Laurent
Baseggio, Lucile
Sujobert, Pierre
Huet, Sarah
Chabane, Kaddour
Callet-Bauchu, Evelyne
Verney, Aurélie
Hayette, Sandrine
Desvignes, Jean-Pierre
Salgado, David
Levy, Nicolas
Béroud, Christophe
Felman, Pascale
Berger, Françoise
Magaud, Jean-Pierre
Genestier, Laurent
Salles, Gilles
Traverse-Glehen, Alexandra
Exome sequencing identifies recurrent BCOR alterations and the absence of KLF2, TNFAIP3 and MYD88 mutations in splenic diffuse red pulp small B-cell lymphoma
title Exome sequencing identifies recurrent BCOR alterations and the absence of KLF2, TNFAIP3 and MYD88 mutations in splenic diffuse red pulp small B-cell lymphoma
title_full Exome sequencing identifies recurrent BCOR alterations and the absence of KLF2, TNFAIP3 and MYD88 mutations in splenic diffuse red pulp small B-cell lymphoma
title_fullStr Exome sequencing identifies recurrent BCOR alterations and the absence of KLF2, TNFAIP3 and MYD88 mutations in splenic diffuse red pulp small B-cell lymphoma
title_full_unstemmed Exome sequencing identifies recurrent BCOR alterations and the absence of KLF2, TNFAIP3 and MYD88 mutations in splenic diffuse red pulp small B-cell lymphoma
title_short Exome sequencing identifies recurrent BCOR alterations and the absence of KLF2, TNFAIP3 and MYD88 mutations in splenic diffuse red pulp small B-cell lymphoma
title_sort exome sequencing identifies recurrent bcor alterations and the absence of klf2, tnfaip3 and myd88 mutations in splenic diffuse red pulp small b-cell lymphoma
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5622860/
https://www.ncbi.nlm.nih.gov/pubmed/28751561
http://dx.doi.org/10.3324/haematol.2016.160192
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