Bilateral renal tumour as indicator for birt-hogg-dubé syndrome.
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.
Department of Pulmonary Diseases, VU University Medical Center, P.O. Box 7057, 1007 MB Amsterdam, The Netherlands.
P C
PC
Johannesma
Department of Urology, VU University Medical Center, Amsterdam, The Netherlands.
R J A
RJ
van Moorselaar
Urologic Oncology and Department of Urology, The Netherlands Cancer Institute, P.O. Box 90203, 1006 BE Amsterdam, The Netherlands.
S
S
Horenblas
Department of Clinical Genetics, The Netherlands Cancer Institute, P.O. Box 90203, 1006 BE Amsterdam, The Netherlands.
L E
LE
van der Kolk
Department of Pathology, VU University Medical Center, Amsterdam, The Netherlands.
E
E
Thunnissen
Department of Radiology, VU University Medical Center, Amsterdam, The Netherlands.
J H T M
JH
van Waesberghe
Department of Clinical Genetics, The Netherlands Cancer Institute, P.O. Box 90203, 1006 BE Amsterdam, The Netherlands ; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.
F H
FH
Menko
Department of Pulmonary Diseases, VU University Medical Center, P.O. Box 7057, 1007 MB Amsterdam, The Netherlands.
P E
PE
Postmus