AUTHOR=Kimura Ryo , Ishii Yuko , Tomiwa Kiyotaka , Awaya Tomonari , Nakata Masatoshi , Kato Takeo , Okazaki Shin , Heike Toshio , Hagiwara Masatoshi 

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

JOURNAL=Frontiers in Genetics

VOLUME=9

YEAR=2018

URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2018.00368

DOI=10.3389/fgene.2018.00368

ISSN=1664-8021

ABSTRACT=<p>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.</p>