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

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  • 木村, 亮
    Department of Anatomy and Developmental Biology, Graduate School of Medicine, Kyoto University
  • 粟屋, 智就
    Department of Pediatric Hematology/Oncology, Osaka City General Hospital
  • 中田, 昌利
    Department of Child Neurology, Osaka City General Hospital･Department of Pediatrics, Graduate School of Medicine, Kyoto University･Todaiji Ryoiku Hospital for Children
  • 平家, 俊男
    Department of Anatomy and Developmental Biology, Graduate School of Medicine, Kyoto University･Department of Pediatrics, Graduate School of Medicine, Kyoto University
  • 萩原, 正敏
    Department of Anatomy and Developmental Biology, Graduate School of Medicine, Kyoto University
  • Kato, Takeo
    Department of Pediatrics, Graduate School of Medicine, Kyoto University
  • Okazaki, Shin
    Department of Child Neurology, Osaka City General Hospital
  • Heike, Toshio
    Department of Pediatrics, Graduate School of Medicine, Kyoto University
  • Hagiwara, Masatoshi
    Department of Anatomy and Developmental Biology, Graduate School of Medicine, Kyoto University

抄録

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.

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