[A case of renal cell carcinoma associated with von Hippel-Lindau disease and the necessity for family genetic diagnosis].
We report a 47-year-old man who had bilateral renal cell carcinoma (RCC) associated with von Hippel-Lindau (VHL) disease. Surgical resection of hemangioblastomas and left nephrectomy for RCC had been done previously. This time, a small RCC was found in his right kidney and enucleation was performed to preserve renal function. His mother had retinal angioma, hemangioblastoma, and bilateral RCC. Hemangioblastoma was also found in his daughter. Genetic diagnosis was performed in his family and a germline VHL mutation was recognized. For improvement of the prognosis of VHL disease, genetic diagnosis and early clinical assessment are important.
Nanri
M
M
Department of Urology, Nishiarai Hospital.
Uda
M
M
Iguchi
Y
Y
Gouya
N
N
Toma
H
H
Kihara
T
T
D002292:Carcinoma, Renal Cell / Q000150:complications*; D005820:Genetic Testing; D006801:Humans; D007680:Kidney Neoplasms / Q000150:complications*; D008297:Male; D008875:Middle Aged; D006623:von Hippel-Lindau Disease / Q000150:complications* / Q000235:genetics*