JOURNAL OF FAMILIAL TUMORS
Online ISSN : 2189-6674
Print ISSN : 1346-1052
Renal Cell Carcinoma Developed in Tuberous Sclerosis (Type 2) Patient
Mari Wataya-KanedaToshiaki YoshiokaJiro OnoOkio HinoKunihiko Yoshikawa
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2002 Volume 2 Issue 2 Pages 45-50

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Abstract

Tuberous sclerosis complex, a genetically transmitted multi-systemic disorder characterized by systemic hamartomas, is associated with renal lesions in more than 80% of cases. Most of these are angiomyolipomas and renal cysts. Renal cell carcinoma is rare. An association between tuberous sclerosis and renal cell carcinoma is not clear. Here we report a case of tuberous sclerosis complex associated with renal cell carcinoma. Patient was 18 years old woman and had typical tuberous sclerosis symptoms such as mental retardation, seizures and many dermatologic features. Genetic investigation of the patient confirmed tuberous sclerosis type 2(TSC2). Her renal symptoms were hematuria and abdominal pain. Renal ultrasonography and computed tomography detected angiomyolipomas, but not renal cell carcinoma. Because of renal hemorrhage, an emergency nephrectomy was done subsequently. Histopathology revealed a multifocal renal cell carcinomas (clear cell carcinoma) with angiomyolipomas. Immunohistochemical analysis of renal cell carcinomas did not show immunoreactivity for HMB-45 antibody, but displayed immunoreactivity with cytokeratin and anti-human epithelial membrane antigen which were frequently associated with sporadic renal cell carcinoma. These results suggest that renal cell carcinoma in this case is not related to angiomyolipoma.

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© 2002 The Japanese Society for Familial Tumors
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