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Title: Williams-Beuren Syndrome as a Potential Risk Factor for Burkitt Lymphoma
Authors: Kimura, Ryo  KAKEN_id  orcid https://orcid.org/0000-0003-3220-991X (unconfirmed)
Ishii, Yuko
Tomiwa, Kiyotaka
Awaya, Tomonari  kyouindb  KAKEN_id  orcid https://orcid.org/0000-0002-9004-3172 (unconfirmed)
Nakata, Masatoshi
Kato, Takeo
Okazaki, Shin
Heike, Toshio
Hagiwara, Masatoshi  kyouindb  KAKEN_id
Author's alias: 木村, 亮
粟屋, 智就
中田, 昌利
平家, 俊男
萩原, 正敏
Keywords: williams–beuren syndrome
burkitt lymphoma
gene expression
non-hodgkin lymphoma
7q11.23
Issue Date: 4-Sep-2018
Publisher: Frontiers Media SA
Journal title: Frontiers in Genetics
Volume: 9
Thesis number: 368
Abstract: 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.
Rights: © 2018 Kimura, Ishii, Tomiwa, Awaya, Nakata, Kato, Okazaki, Heike and Hagiwara. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
URI: http://hdl.handle.net/2433/234850
DOI(Published Version): 10.3389/fgene.2018.00368
PubMed ID: 30233648
Appears in Collections:Journal Articles

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