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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Detalles Bibliográficos
Autores principales: Kimura, Ryo, Ishii, Yuko, Tomiwa, Kiyotaka, Awaya, Tomonari, Nakata, Masatoshi, Kato, Takeo, Okazaki, Shin, Heike, Toshio, Hagiwara, Masatoshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2018
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6131482/
https://www.ncbi.nlm.nih.gov/pubmed/30233648
http://dx.doi.org/10.3389/fgene.2018.00368
Descripción
Sumario: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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