Case Report: Expanding the tumour spectrum associated with the Birt-Hogg-Dubé cancer susceptibility syndrome

Patients with the Birt-Hogg-Dubé cancer susceptibility syndrome are at high risk of developing renal cell carcinoma, pulmonary cysts and pneumothorax, and skin lesions called fibrofolliculomas. Here we report the case of a Birt-Hogg-Dubé patient with a primary clear cell carcinoma of the thyroid (a...

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Autores principales: Benusiglio, Patrick R., Gad, Sophie, Massard, Christophe, Carton, Edith, Longchampt, Elisabeth, Faudot, Tiffany, Lamoril, Jérôme, Ferlicot, Sophie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: F1000Research 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4168750/
https://www.ncbi.nlm.nih.gov/pubmed/25254107
http://dx.doi.org/10.12688/f1000research.4205.1
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author Benusiglio, Patrick R.
Gad, Sophie
Massard, Christophe
Carton, Edith
Longchampt, Elisabeth
Faudot, Tiffany
Lamoril, Jérôme
Ferlicot, Sophie
author_facet Benusiglio, Patrick R.
Gad, Sophie
Massard, Christophe
Carton, Edith
Longchampt, Elisabeth
Faudot, Tiffany
Lamoril, Jérôme
Ferlicot, Sophie
author_sort Benusiglio, Patrick R.
collection PubMed
description Patients with the Birt-Hogg-Dubé cancer susceptibility syndrome are at high risk of developing renal cell carcinoma, pulmonary cysts and pneumothorax, and skin lesions called fibrofolliculomas. Here we report the case of a Birt-Hogg-Dubé patient with a primary clear cell carcinoma of the thyroid (a very rare type of thyroid cancer), and FLCN loss of heterozygosity within the tumour, providing molecular evidence for this association. Our findings expand the tumour spectrum associated with this syndrome. It is paramount to identify individuals with Birt-Hogg-Dubé so that they, and subsequently their affected relatives, can benefit from tailored cancer screening and prevention.
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spelling pubmed-41687502014-09-23 Case Report: Expanding the tumour spectrum associated with the Birt-Hogg-Dubé cancer susceptibility syndrome Benusiglio, Patrick R. Gad, Sophie Massard, Christophe Carton, Edith Longchampt, Elisabeth Faudot, Tiffany Lamoril, Jérôme Ferlicot, Sophie F1000Res Case Report Patients with the Birt-Hogg-Dubé cancer susceptibility syndrome are at high risk of developing renal cell carcinoma, pulmonary cysts and pneumothorax, and skin lesions called fibrofolliculomas. Here we report the case of a Birt-Hogg-Dubé patient with a primary clear cell carcinoma of the thyroid (a very rare type of thyroid cancer), and FLCN loss of heterozygosity within the tumour, providing molecular evidence for this association. Our findings expand the tumour spectrum associated with this syndrome. It is paramount to identify individuals with Birt-Hogg-Dubé so that they, and subsequently their affected relatives, can benefit from tailored cancer screening and prevention. F1000Research 2014-07-11 /pmc/articles/PMC4168750/ /pubmed/25254107 http://dx.doi.org/10.12688/f1000research.4205.1 Text en Copyright: © 2014 Benusiglio PR et al. http://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the terms of the Creative Commons Attribution Licence, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. http://creativecommons.org/publicdomain/zero/1.0/ Data associated with the article are available under the terms of the Creative Commons Zero "No rights reserved" data waiver (CC0 1.0 Public domain dedication).
spellingShingle Case Report
Benusiglio, Patrick R.
Gad, Sophie
Massard, Christophe
Carton, Edith
Longchampt, Elisabeth
Faudot, Tiffany
Lamoril, Jérôme
Ferlicot, Sophie
Case Report: Expanding the tumour spectrum associated with the Birt-Hogg-Dubé cancer susceptibility syndrome
title Case Report: Expanding the tumour spectrum associated with the Birt-Hogg-Dubé cancer susceptibility syndrome
title_full Case Report: Expanding the tumour spectrum associated with the Birt-Hogg-Dubé cancer susceptibility syndrome
title_fullStr Case Report: Expanding the tumour spectrum associated with the Birt-Hogg-Dubé cancer susceptibility syndrome
title_full_unstemmed Case Report: Expanding the tumour spectrum associated with the Birt-Hogg-Dubé cancer susceptibility syndrome
title_short Case Report: Expanding the tumour spectrum associated with the Birt-Hogg-Dubé cancer susceptibility syndrome
title_sort case report: expanding the tumour spectrum associated with the birt-hogg-dubé cancer susceptibility syndrome
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4168750/
https://www.ncbi.nlm.nih.gov/pubmed/25254107
http://dx.doi.org/10.12688/f1000research.4205.1
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