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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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
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author Kimura, Ryo
Ishii, Yuko
Tomiwa, Kiyotaka
Awaya, Tomonari
Nakata, Masatoshi
Kato, Takeo
Okazaki, Shin
Heike, Toshio
Hagiwara, Masatoshi
author_facet Kimura, Ryo
Ishii, Yuko
Tomiwa, Kiyotaka
Awaya, Tomonari
Nakata, Masatoshi
Kato, Takeo
Okazaki, Shin
Heike, Toshio
Hagiwara, Masatoshi
author_sort Kimura, Ryo
collection PubMed
description 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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spelling pubmed-61314822018-09-19 Williams–Beuren Syndrome as a Potential Risk Factor for Burkitt Lymphoma Kimura, Ryo Ishii, Yuko Tomiwa, Kiyotaka Awaya, Tomonari Nakata, Masatoshi Kato, Takeo Okazaki, Shin Heike, Toshio Hagiwara, Masatoshi Front Genet Genetics 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. Frontiers Media S.A. 2018-09-04 /pmc/articles/PMC6131482/ /pubmed/30233648 http://dx.doi.org/10.3389/fgene.2018.00368 Text en Copyright © 2018 Kimura, Ishii, Tomiwa, Awaya, Nakata, Kato, Okazaki, Heike and Hagiwara. http://creativecommons.org/licenses/by/4.0/ 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.
spellingShingle Genetics
Kimura, Ryo
Ishii, Yuko
Tomiwa, Kiyotaka
Awaya, Tomonari
Nakata, Masatoshi
Kato, Takeo
Okazaki, Shin
Heike, Toshio
Hagiwara, Masatoshi
Williams–Beuren Syndrome as a Potential Risk Factor for Burkitt Lymphoma
title Williams–Beuren Syndrome as a Potential Risk Factor for Burkitt Lymphoma
title_full Williams–Beuren Syndrome as a Potential Risk Factor for Burkitt Lymphoma
title_fullStr Williams–Beuren Syndrome as a Potential Risk Factor for Burkitt Lymphoma
title_full_unstemmed Williams–Beuren Syndrome as a Potential Risk Factor for Burkitt Lymphoma
title_short Williams–Beuren Syndrome as a Potential Risk Factor for Burkitt Lymphoma
title_sort williams–beuren syndrome as a potential risk factor for burkitt lymphoma
topic Genetics
url 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
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