Williams–Beuren Syndrome as a Potential Risk Factor for Burkitt Lymphoma

Williams–Beuren syndrome (WBS) is a multisystemic neurodevelopmental disorder caused by a hemizygous deletion on chromosome 7q11.23. Though at present there is a limited number of reports on WBS patients with tumors, most cases are related to blood cancer in children with WBS. We describe a case of...

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Bibliographic Details
Main Authors: Ryo Kimura, Yuko Ishii, Kiyotaka Tomiwa, Tomonari Awaya, Masatoshi Nakata, Takeo Kato, Shin Okazaki, Toshio Heike, Masatoshi Hagiwara
Format: Article
Language:English
Published: Frontiers Media S.A. 2018-09-01
Series:Frontiers in Genetics
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Online Access:https://www.frontiersin.org/article/10.3389/fgene.2018.00368/full
Description
Summary:Williams–Beuren syndrome (WBS) is a multisystemic neurodevelopmental disorder caused by a hemizygous deletion on chromosome 7q11.23. Though at present there is a limited number of reports on WBS patients with tumors, most cases are related to blood cancer in children with WBS. We describe a case of Burkitt lymphoma in a 21-year-old man with WBS. In addition to providing a summary of published reports describing tumors observed in patients with WBS, we present a hypothesis about a possible mechanism of oncogenesis. In particular, we identified some significantly dysregulated cancer-related genes using blood samples from this patient at the age of 19 years (who have not yet developed Burkitt lymphoma). Our findings may provide a new perspective on the relation between WBS and Burkitt lymphoma.
ISSN:1664-8021