The browser you are using is not supported by this website. All versions of Internet Explorer are no longer supported, either by us or Microsoft (read more here: https://www.microsoft.com/en-us/microsoft-365/windows/end-of-ie-support).

Please use a modern browser to fully experience our website, such as the newest versions of Edge, Chrome, Firefox or Safari etc.

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

På svenska

Author

  • David Guenat
  • Samuel Quentin
  • Carmelo Rizzari
  • Catarina Lundin
  • Tiziana Coliva
  • Patrick Edery
  • Helen Fryssira
  • Laurent Bermont
  • Christophe Ferrand
  • Jean Soulier
  • Christophe Borg
  • Pierre-Simon Rohrlich
Show all

Summary, in English

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.

Publishing year

2014

Language

English

Publication/Series

Journal of Hematology & Oncology

Volume

7

Document type

Journal article (letter)

Publisher

BioMed Central (BMC)

Topic

  • Medical Genetics

Keywords

  • Williams-Beuren syndrome
  • Non-Hodgkin Lymphoma
  • 7q11.23
  • Cancer
  • predisposition
  • DNA repair

Status

Published

ISBN/ISSN/Other

  • ISSN: 1756-8722