Distinctive morphology of renal cell carcinomas in tuberous sclerosis

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

Research output: Contribution to journalArticle

16 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)409-418
Number of pages10
JournalInternational Journal of Surgical Pathology
Volume18
Issue number5
DOIs
StatePublished - Oct 1 2010

Keywords

  • angiomyolipoma
  • renal cell carcinoma
  • tuberous sclerosis complex

ASJC Scopus subject areas

  • Anatomy
  • Surgery
  • Pathology and Forensic Medicine

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