Collecting duct carcinoma associated with oncocytoma

Yousef, George M.; Ejeckam, G. C.; Best, Leonico M.; Diamandis, Eleftherios P.

doi:10.1590/s1677-55382005000500008

Cited by 8 publications

(3 citation statements)

References 7 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Renal cell carcinoma, which presents as cystic RCC, was frequently observed in the extremely enlarged kidneys. Cystic RCC was first described in 1986 and more cases have been reported since then [24], [25], [26], [27], [28], [29], [30], [31], [32]. Images of human cystic RCC are also available in the webpathology website (http://www.webpathology.com/image.aspcase66n8; http://www.webpathology.com/image.aspcase66n9).…”

Section: Resultsmentioning

confidence: 99%

Deficiency of FLCN in Mouse Kidney Led to Development of Polycystic Kidneys and Renal Neoplasia

et al. 2008

View full text Add to dashboard Cite

The Birt–Hogg–Dubé (BHD) disease is a genetic cancer syndrome. The responsible gene, BHD, has been identified by positional cloning and thought to be a novel tumor suppressor gene. BHD mutations cause many types of diseases including renal cell carcinomas, fibrofolliculomas, spontaneous pneumothorax, lung cysts, and colonic polyps/cancers. By combining Gateway Technology with the Ksp-Cre gene knockout system, we have developed a kidney-specific BHD knockout mouse model. BHDflox/flox/Ksp-Cre mice developed enlarged kidneys characterized by polycystic kidneys, hyperplasia, and cystic renal cell carcinoma. The affected BHDflox/flox/Ksp-Cre mice died of renal failure at approximate three weeks of age, having blood urea nitrogen levels over tenfold higher than those of BHD flox/+/Ksp-Cre and wild-type littermate controls. We further demonstrated that these phenotypes were caused by inactivation of BHD and subsequent activation of the mTOR pathway. Application of rapamycin, which inhibits mTOR activity, to the affected mice led to extended survival and inhibited further progression of cystogenesis. These results provide a correlation of kidney-targeted gene inactivation with renal carcinoma, and they suggest that the BHD product FLCN, functioning as a cyst and tumor suppressor, like other hamartoma syndrome–related proteins such as PTEN, LKB1, and TSC1/2, is a component of the mTOR pathway, constituting a novel FLCN-mTOR signaling branch that regulates cell growth/proliferation.

show abstract

Section: Resultsmentioning

confidence: 99%

Deficiency of FLCN in Mouse Kidney Led to Development of Polycystic Kidneys and Renal Neoplasia

et al. 2008

View full text Add to dashboard Cite

show abstract

“…Renal cell carcinoma, which presents as cystic RCC, was frequently observed in the extremely enlarged kidneys. Cystic RCC was first described in 1986 and more cases have been reported since then [24,25,26,27,28,29,30,31,32]. Images of human cystic RCC are also available in the webpathology website (http:// www.webpathology.com/image.asp?case = 66&n = 8; http://www.…”

Section: Kidney-specific Inactivation Of Bhd Produced Renal Cell Carc...mentioning

confidence: 99%

Correction: Deficiency of FLCN in Mouse Kidney Led to Development of Polycystic Kidneys and Renal Neoplasia

Chen¹,

Futami²,

Petillo³

et al. 2008

PLoS ONE

View full text Add to dashboard Cite

The Birt-Hogg-Dube ´(BHD) disease is a genetic cancer syndrome. The responsible gene, BHD, has been identified by positional cloning and thought to be a novel tumor suppressor gene. BHD mutations cause many types of diseases including renal cell carcinomas, fibrofolliculomas, spontaneous pneumothorax, lung cysts, and colonic polyps/cancers. By combining Gateway Technology with the Ksp-Cre gene knockout system, we have developed a kidney-specific BHD knockout mouse model. BHD flox/flox /Ksp-Cre mice developed enlarged kidneys characterized by polycystic kidneys, hyperplasia, and cystic renal cell carcinoma. The affected BHD flox/flox /Ksp-Cre mice died of renal failure at approximate three weeks of age, having blood urea nitrogen levels over tenfold higher than those of BHD flox/+ /Ksp-Cre and wild-type littermate controls. We further demonstrated that these phenotypes were caused by inactivation of BHD and subsequent activation of the mTOR pathway. Application of rapamycin, which inhibits mTOR activity, to the affected mice led to extended survival and inhibited further progression of cystogenesis. These results provide a correlation of kidney-targeted gene inactivation with renal carcinoma, and they suggest that the BHD product FLCN, functioning as a cyst and tumor suppressor, like other hamartoma syndrome-related proteins such as PTEN, LKB1, and TSC1/2, is a component of the mTOR pathway, constituting a novel FLCN-mTOR signaling branch that regulates cell growth/proliferation.

show abstract

“…However, with its potential unfavorable complications and relatively high nondiagnostic biopsy rate [4] , RTB is not the standard practice in clinical. What is more, there is a possibility that RCC could co-exist with oncocytoma in rare cases [5] , thus the benign biopsy tissue would create a clinical dilemma because it could not rule out a malignant tumor. Thus RTB has not been commonly accepted by either doctors or patients.…”

mentioning

confidence: 99%