肉腫様腎細胞癌を伴ったvon Hippel-Lindau病の一例  [in Japanese] SARCOMATOID RENAL CELL CARCINOMA WITH VON HIPPEL-LINDAU DISEASE: A CASE REPORT  [in Japanese]

68歳女性.小脳血管芽腫摘除術の既往がある.全身倦怠感で受診しCTで同時性両側腎腫瘍と肺・肝転移を認めた.家族歴や遺伝子異常は明らかでなかったが,臨床的にvon Hippel-Lindau病(VHL)と診断し,右主病変に対して根治的右腎摘除術,左の小病変に動脈塞栓術を施行し,術後インターフェロン療法を行った.左腎腫瘍は縮小し,肺転移巣は消失した.手術の4年後に左腎腫瘍が増大し,左腎部分切除術を施行したが,1年後に腫瘍死した.左右腎共に淡明細胞癌と肉腫様癌の混合型腎細胞癌であった.VHL腎癌のほとんどは淡明細胞癌で,比較的に予後良好とされている.しかしVHLの肉腫様腎癌の報告やその予後に関する報告は少なく,本症例は本邦で1例目である.

We report a 68-year-old woman who had bilateral renal cell carcinoma (RCC) associated with von Hippel-Lindau (VHL) disease. Surgical resection of a central nervous system hemangioblastoma had been done previously. This time, synchronous bilateral RCCs were found in her kidneys, with metastases to lungs and liver. Right radical nephrectomy was performed to remove the primary tumor in the right kidney. Histopathological examination of the tumor revealed clear cell RCC with a sarcomatoid component. After surgery, transcatheter arterial embolization was performed for the tumor in the left kidney and interferon therapy was commenced. The left renal tumor decreased in size and interferon therapy was effective against the metastatic lung tumors. However, 4 years after resection of the right RCC, the tumor in the left kidney increased progressively in size and partial left nephrectomy was performed. Histopathological examination of the resected tumor also showed clear cell type RCC with a sarcomatoid component The patient eventually died of her disease at 5 years after resection of the right RCC. RCC associated with VHL is usually of the clear cell type has a relatively good prognosis. Sarcomatoid RCC is rare in VHL patients and, to our knowledge, the present report is the first case of sarcomatoid RCC associated with VHL in the Japanese literature.