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International Journal of Surgical Pathology
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Article

Distinctive Morphology of Renal Cell Carcinomas in Tuberous Sclerosis

Andrew Schreiner, Siamak Daneshmand, Aaron Bayne, Gayle Countryman, Christopher L. Corless, NA, and Megan L. Troxell*

* To whom correspondence should be addressed. E-mail: troxellm{at}ohsu.edu.


  Abstract
Tuberous sclerosis complex results from mutations in 1 of 2 interacting gene products, hamartin or tuberin. The syndrome is characterized by hamartomas and neoplastic lesions, including angiomyolipomas of the kidney and other organs. Renal cell carcinoma (RCC) in tuberous sclerosis remains relatively poorly characterized because historical studies were confounded by the inclusion of epithelioid angiomyolipomas. The authors present a patient with tuberous sclerosis and bilateral renal lesions, including multiple minute angiomyolipomas, cortical cysts, and 4 separate RCCs of unclassified type. The carcinomas shared distinctive morphological features, including sheet-like, glandular, trabecular, or cystic architecture and abundant granular eosinophilic cytoplasm. By definition, the carcinomas were keratin positive and negative for HMB-45 and Melan-A. Detailed immunohistochemical analysis revealed heterogeneity among the cortical cysts and carcinomas. The histopathological features of these carcinomas illustrate characteristics of renal carcinoma that are probably related to genetic alterations of tuberous sclerosis.

First published on April 29, 2009
International Journal of Surgical Pathology 2009, doi:10.1177/1066896909333510
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