Webbläsaren som du använder stöds inte av denna webbplats. Alla versioner av Internet Explorer stöds inte längre, av oss eller Microsoft (läs mer här: * https://www.microsoft.com/en-us/microsoft-365/windows/end-of-ie-support).

Var god och använd en modern webbläsare för att ta del av denna webbplats, som t.ex. nyaste versioner av Edge, Chrome, Firefox eller Safari osv.

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

In English

Författare

  • 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
Visa allt

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.

Publiceringsår

2014

Språk

Engelska

Publikation/Tidskrift/Serie

Journal of Hematology & Oncology

Volym

7

Dokumenttyp

Artikel i tidskrift

Förlag

BioMed Central (BMC)

Ämne

  • Medical Genetics

Nyckelord

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

Status

Published

ISBN/ISSN/Övrigt

  • ISSN: 1756-8722