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Apparent Renal Cell Carcinomas in Tuberous Sclerosis Are Heterogeneous: The Identification of Malignant Epithelioid Angiomyolipoma

Pea, Maurizio M.D.; Bonetti, Franco M.D.; Martignoni, Guido M.D.; Henske, Elizabeth Petri M.D.; Manfrin, Erminia M.D.; Colato, Chiara M.D.; Bernstein, Jay M.D.

The American Journal of Surgical Pathology: February 1998 - Volume 22 - Issue 2 - p 180-187
Original Articles

Renal epithelial tumors (carcinoma and oncocytoma) have been reported with higher a frequency than expected in patients with the tuberous sclerosis complex. However, the recent identification of a monotypic, epithelioid variant of angiomyolipoma, closely simulating renal cell carcinoma, has cast doubt on the real frequency of carcinoma. Immunohistochemical analysis with a panel of antibodies, including melanogenesis marker HMB45, can discriminate between carcinoma and carcinoma-like angiomyolipoma. We studied five tumors previously reported as carcinoma and found that only one of them showed an immunohistochemical phenotype indicative of an epithelial tumor (Ker+, HMB45). Three tumors exhibited a phenotype compatible with the monotypic epithelioid variant of angiomyolipoma (HMB45+, Ker), and two of the three patients died of metastatic disease. The last patient had unusual clinical features, and the tumor was positive both for HMB45 and keratin. It is concluded that (1) renal cell carcinoma is less common in tuberous sclerosis complex than previously believed, (2) some cases called renal cell carcinoma probably represent a monotypic, epithelioid variant of angiomyolipoma, and (3) epithelioid angiomyolipoma is a potentially malignant tumor with invasion and metastases. These findings indicate that all reported renal carcinomas in tuberous sclerosis complex, therefore, must be reevaluated.

From Istituto di Anatomia Patologica, Università di Verona, Verona, Italy (M.P., F.B., G.M., E.M., C.C.); The Fox Chase Cancer Center, Philadelphia, Pennsylvania (E.P.H.); and Research Institute, William Beaumont Hospital (J.B.), Royal Oak, Detroit, Michigan, USA.

This study was supported in part by Associazione Italiana perla Ricerca sul Cancro, Milan, and Progetto Sanita '96-97 Fondazione Cassa di Risparmio diVR-V1-BL-AN: Un centro di ricerche sulla sclerosi tuberosa.

Address correspondence and reprint requests to Dr. F. Bonetti, Istituto di Anatomia Patologica, Policlinico B, Roma, Verona 37134, Italy.

© Lippincott-Raven Publishers