Constitutional and somatic deletions of the Williams-Beuren syndrome critical region in Non-Hodgkin Lymphoma

Here, we report and investigate the genomic alterations of two novel cases of Non-Hodgkin Lymphoma (NHL) in children with Williams-Beuren syndrome (WBS), a multisystem disorder caused by 7q11.23 hemizygous deletion. Additionally, we report the case of a child with NHL and a somatic 7q11.23 deletion....

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Autores principales: Guenat, David, Quentin, Samuel, Rizzari, Carmelo, Lundin, Catarina, Coliva, Tiziana, Edery, Patrick, Fryssira, Helen, Bermont, Laurent, Ferrand, Christophe, Soulier, Jean, Borg, Christophe, Rohrlich, Pierre-Simon
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Letter to the Editor
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4228180/
https://www.ncbi.nlm.nih.gov/pubmed/25388916
http://dx.doi.org/10.1186/s13045-014-0082-4
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author Guenat, David
Quentin, Samuel
Rizzari, Carmelo
Lundin, Catarina
Coliva, Tiziana
Edery, Patrick
Fryssira, Helen
Bermont, Laurent
Ferrand, Christophe
Soulier, Jean
Borg, Christophe
Rohrlich, Pierre-Simon
author_facet Guenat, David
Quentin, Samuel
Rizzari, Carmelo
Lundin, Catarina
Coliva, Tiziana
Edery, Patrick
Fryssira, Helen
Bermont, Laurent
Ferrand, Christophe
Soulier, Jean
Borg, Christophe
Rohrlich, Pierre-Simon
author_sort Guenat, David
collection PubMed
description Here, we report and investigate the genomic alterations of two novel cases of Non-Hodgkin Lymphoma (NHL) in children with Williams-Beuren syndrome (WBS), a multisystem disorder caused by 7q11.23 hemizygous deletion. Additionally, we report the case of a child with NHL and a somatic 7q11.23 deletion. Although the WBS critical region has not yet been identified as a susceptibility locus in NHL, it harbors a number of genes involved in DNA repair. The high proportion of pediatric NHL reported in WBS is intriguing. Therefore, the role of haploinsufficiency of genes located at 7q11.23 in lymphomagenesis deserves to be investigated. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1186/s13045-014-0082-4) contains supplementary material, which is available to authorized users.
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spelling pubmed-42281802014-11-13 Constitutional and somatic deletions of the Williams-Beuren syndrome critical region in Non-Hodgkin Lymphoma Guenat, David Quentin, Samuel Rizzari, Carmelo Lundin, Catarina Coliva, Tiziana Edery, Patrick Fryssira, Helen Bermont, Laurent Ferrand, Christophe Soulier, Jean Borg, Christophe Rohrlich, Pierre-Simon J Hematol Oncol Letter to the Editor Here, we report and investigate the genomic alterations of two novel cases of Non-Hodgkin Lymphoma (NHL) in children with Williams-Beuren syndrome (WBS), a multisystem disorder caused by 7q11.23 hemizygous deletion. Additionally, we report the case of a child with NHL and a somatic 7q11.23 deletion. Although the WBS critical region has not yet been identified as a susceptibility locus in NHL, it harbors a number of genes involved in DNA repair. The high proportion of pediatric NHL reported in WBS is intriguing. Therefore, the role of haploinsufficiency of genes located at 7q11.23 in lymphomagenesis deserves to be investigated. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1186/s13045-014-0082-4) contains supplementary material, which is available to authorized users. BioMed Central 2014-11-07 /pmc/articles/PMC4228180/ /pubmed/25388916 http://dx.doi.org/10.1186/s13045-014-0082-4 Text en © Guenat et al.; licensee BioMed Central Ltd. 2014 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Letter to the Editor
Guenat, David
Quentin, Samuel
Rizzari, Carmelo
Lundin, Catarina
Coliva, Tiziana
Edery, Patrick
Fryssira, Helen
Bermont, Laurent
Ferrand, Christophe
Soulier, Jean
Borg, Christophe
Rohrlich, Pierre-Simon
Constitutional and somatic deletions of the Williams-Beuren syndrome critical region in Non-Hodgkin Lymphoma
title Constitutional and somatic deletions of the Williams-Beuren syndrome critical region in Non-Hodgkin Lymphoma
title_full Constitutional and somatic deletions of the Williams-Beuren syndrome critical region in Non-Hodgkin Lymphoma
title_fullStr Constitutional and somatic deletions of the Williams-Beuren syndrome critical region in Non-Hodgkin Lymphoma
title_full_unstemmed Constitutional and somatic deletions of the Williams-Beuren syndrome critical region in Non-Hodgkin Lymphoma
title_short Constitutional and somatic deletions of the Williams-Beuren syndrome critical region in Non-Hodgkin Lymphoma
title_sort constitutional and somatic deletions of the williams-beuren syndrome critical region in non-hodgkin lymphoma
topic Letter to the Editor
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4228180/
https://www.ncbi.nlm.nih.gov/pubmed/25388916
http://dx.doi.org/10.1186/s13045-014-0082-4
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