Bilateral Renal Tumour as Indicator for Birt-Hogg-Dubé Syndrome

P. C. Johannesma; R. J. A. van Moorselaar; S. Horenblas; L. E. van der Kolk; E. Thunnissen; J. H. T. M. van Waesberghe; F. H. Menko; P. E. Postmus

doi:10.1155/2014/618675

Case Reports in Medicine (Jan 2014)

Bilateral Renal Tumour as Indicator for Birt-Hogg-Dubé Syndrome

P. C. Johannesma,
R. J. A. van Moorselaar,
S. Horenblas,
L. E. van der Kolk,
E. Thunnissen,
J. H. T. M. van Waesberghe,
F. H. Menko,
P. E. Postmus

Affiliations

P. C. Johannesma: Department of Pulmonary Diseases, VU University Medical Center, P.O. Box 7057, 1007 MB Amsterdam, The Netherlands
R. J. A. van Moorselaar: Department of Urology, VU University Medical Center, Amsterdam, The Netherlands
S. Horenblas: Urologic Oncology and Department of Urology, The Netherlands Cancer Institute, P.O. Box 90203, 1006 BE Amsterdam, The Netherlands
L. E. van der Kolk: Department of Clinical Genetics, The Netherlands Cancer Institute, P.O. Box 90203, 1006 BE Amsterdam, The Netherlands
E. Thunnissen: Department of Pathology, VU University Medical Center, Amsterdam, The Netherlands
J. H. T. M. van Waesberghe: Department of Radiology, VU University Medical Center, Amsterdam, The Netherlands
F. H. Menko: Department of Clinical Genetics, The Netherlands Cancer Institute, P.O. Box 90203, 1006 BE Amsterdam, The Netherlands
P. E. Postmus: Department of Pulmonary Diseases, VU University Medical Center, P.O. Box 7057, 1007 MB Amsterdam, The Netherlands

DOI: https://doi.org/10.1155/2014/618675
Journal volume & issue: Vol. 2014

Abstract

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Birt-Hogg-Dubé (BHD) syndrome is a cancer disorder caused by a pathogenic FLCN mutation characterized by fibrofolliculomas, lung cysts, pneumothorax, benign renal cyst, and renal cell carcinoma (RCC). In this case we describe a patient with bilateral renal tumour and a positive familial history for pneumothorax and renal cancer. Based on this clinical presentation, the patient was suspected for BHD syndrome, which was confirmed after molecular testing. We discuss the importance of recognizing this autosomal dominant cancer disorder when a patient is presented at the urologist with a positive family history of chromophobe renal cell cancer or a positive familial history for renal cell cancer and pneumothorax.

Published in Case Reports in Medicine

ISSN: 1687-9627 (Print); 1687-9635 (Online)
Publisher: Wiley
Country of publisher: United Kingdom
LCC subjects: Medicine
Website: https://onlinelibrary.wiley.com/journal/1683

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