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

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

doi:10.3389/fgene.2018.00368

Frontiers in Genetics (Sep 2018)

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

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

Affiliations

Ryo Kimura: Department of Anatomy and Developmental Biology, Graduate School of Medicine, Kyoto University, Kyoto, Japan
Yuko Ishii: Department of Pediatric Hematology/Oncology, Osaka City General Hospital, Osaka, Japan
Kiyotaka Tomiwa: Department of Child Neurology, Osaka City General Hospital, Osaka, Japan
Kiyotaka Tomiwa: Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan
Kiyotaka Tomiwa: Todaiji Ryoiku Hospital for Children, Nara, Japan
Tomonari Awaya: Department of Anatomy and Developmental Biology, Graduate School of Medicine, Kyoto University, Kyoto, Japan
Tomonari Awaya: Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan
Masatoshi Nakata: Department of Anatomy and Developmental Biology, Graduate School of Medicine, Kyoto University, Kyoto, Japan
Takeo Kato: Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan
Shin Okazaki: Department of Child Neurology, Osaka City General Hospital, Osaka, Japan
Toshio Heike: Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan
Masatoshi Hagiwara: Department of Anatomy and Developmental Biology, Graduate School of Medicine, Kyoto University, Kyoto, Japan

DOI: https://doi.org/10.3389/fgene.2018.00368
Journal volume & issue: Vol. 9

Abstract

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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.

Published in Frontiers in Genetics

ISSN: 1664-8021 (Online)
Publisher: Frontiers Media S.A.
Country of publisher: Switzerland
LCC subjects: Science: Biology (General): Genetics
Website: http://journal.frontiersin.org/journal/genetics

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Abstract

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