Case of parotid mucoepidermoid carcinoma: Expanding the spectrum of von Hippel-Lindau–related neoplasms

Michael H. Berger, Darcy Kerr, Artur E. Rangel Filho, Zoukaa B Sargi

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Background: von Hippel–Lindau (VHL)-related tumors occurring outside the spectrum of VHL-defining tumors are rare, and mucoepidermoid carcinoma (MEC) in the setting of VHL disease has not been described. Methods and Results: We describe a patient with confirmed VHL mutation who presented with a parotid mass and a history of 2 central nervous system (CNS) hemangioblastomas and 1 pheochromocytoma. Fine-needle aspiration (FNA) of the mass suggested a benign Warthin tumor. The mass was resected and final pathology revealed a low-grade MEC. Fluorescence in situ hybridization for the MECT1/MAML2 fusion gene frequently associated with MEC was performed and was negative. Molecular testing of tumor cells displayed a likely “second hit” VHL gene mutation. Conclusion: There is a possible broader role of VHL mutations in tumorigenesis beyond the development of classically described VHL-defining neoplasms. Our case also demonstrates the importance of always considering the possibility of a parotid malignancy in patients with VHL despite a benign FNA.

Original languageEnglish (US)
Pages (from-to)E51-E54
JournalHead and Neck
Issue number3
StatePublished - Mar 1 2017



  • fine-needle aspiration
  • mucoepidermoid carcinoma
  • parotid
  • von Hippel–Lindau (VHL) disease

ASJC Scopus subject areas

  • Otorhinolaryngology

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