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

2014 ◽  
Vol 2014 ◽  
pp. 1-4 ◽  
Author(s):  
P. C. Johannesma ◽  
R. J. A. van Moorselaar ◽  
S. Horenblas ◽  
L. E. van der Kolk ◽  
E. Thunnissen ◽  
...  

Birt-Hogg-Dubé (BHD) syndrome is a cancer disorder caused by a pathogenicFLCNmutation 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.

2010 ◽  
Vol 102 (11) ◽  
pp. 1676-1680 ◽  
Author(s):  
S Karami ◽  
K Schwartz ◽  
M P Purdue ◽  
F G Davis ◽  
J J Ruterbusch ◽  
...  

2006 ◽  
Vol 15 (12) ◽  
pp. 2441-2444 ◽  
Author(s):  
Eva Negri ◽  
Roberto Foschi ◽  
Renato Talamini ◽  
Maurizio Montella ◽  
Valerio Ramazzotti ◽  
...  

2015 ◽  
Vol 15 (2) ◽  
pp. 297-300 ◽  
Author(s):  
Paul C. Johannesma ◽  
Arjan C. Houweling ◽  
Fred H. Menko ◽  
I. van de Beek ◽  
Rinze Reinhard ◽  
...  

2007 ◽  
Vol 18 (3) ◽  
pp. 596-600 ◽  
Author(s):  
A. Zucchetto ◽  
L. Dal Maso ◽  
A. Tavani ◽  
M. Montella ◽  
V. Ramazzotti ◽  
...  

2015 ◽  
Vol 126 (1) ◽  
pp. 90-92 ◽  
Author(s):  
Merry Lynn Mann ◽  
Mohammad Ezzati ◽  
Edward D. Tarnawa ◽  
Bruce R. Carr

Author(s):  
Jafer Ali ◽  
Asad Khan ◽  
Mohamed H. Ahmed ◽  
Ravi Madhotra

AbstractWe report two cases of women with metastatic cancers to ampulla of Vater. The first was 91 years old and presented with severe anemia, due to upper gastrointestinal bleeding. She had history of renal cell cancer treated with nephrectomy 8 years ago and diagnosis confirmed to be metastasis of renal cell cancer to ampulla of Vater. The second patient was 54 years old with breast cancer, metastasis and developed obstructive jaundice; diagnosis confirmed to be breast metastasis in the ampulla of Vater. Secondary tumors of the ampulla of Vater due to breast cancer and renal cell cancer are rare findings and prognosis can be poor.


2005 ◽  
Vol 173 (4S) ◽  
pp. 175-175
Author(s):  
Axel S. Merseburger ◽  
Joerg Hennenlotter ◽  
Perikles Simon ◽  
Marcus Horstmann ◽  
Arnulf Stenzl ◽  
...  

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