title: Case of parotid mucoepidermoid carcinoma: Expanding the spectrum of von Hippel-Lindau-related neoplasms.
abstract: 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.
  
  
  
  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.
  
  
  
  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. © 2016 Wiley Periodicals, Inc. Head Neck 39: E51-E54, 2017.
authors.affiliation: Department of Otolaryngology - Head and Neck Surgery, University of Miami Miller School of Medicine, Miami, Florida.
authors.forename: Michael H
authors.initials: MH
authors.lastname: Berger
authors.affiliation: Department on Pathology, University of Miami Miller School of Medicine, Miami, Florida.
authors.forename: Darcy A
authors.initials: DA
authors.lastname: Kerr
authors.affiliation: Department on Pathology, University of Miami Miller School of Medicine, Miami, Florida.
authors.forename: Artur E
authors.initials: AE
authors.lastname: Rangel Filho
authors.affiliation: Department of Otolaryngology - Head and Neck Surgery, University of Miami Miller School of Medicine, Miami, Florida.
authors.forename: Zoukaa B
authors.initials: ZB
authors.lastname: Sargi
mesh_terms: D000310:Adrenal Gland Neoplasms / Q000150:complications / Q000235:genetics / Q000473:pathology; D000328:Adult; D044963:Biopsy, Fine-Needle; D001932:Brain Neoplasms / Q000150:complications / Q000235:genetics / Q000473:pathology; D018277:Carcinoma, Mucoepidermoid / Q000150:complications / Q000473:pathology* / Q000601:surgery; D005260:Female; D005500:Follow-Up Studies; D020022:Genetic Predisposition to Disease; D018325:Hemangioblastoma / Q000150:complications / Q000235:genetics / Q000473:pathology; D006801:Humans; D007150:Immunohistochemistry; D017403:In Situ Hybridization; D009154:Mutation; D010306:Parotid Gland / Q000601:surgery*; D010307:Parotid Neoplasms / Q000150:complications / Q000235:genetics / Q000473:pathology*; D010673:Pheochromocytoma / Q000150:complications / Q000235:genetics / Q000473:pathology; D018570:Risk Assessment; D016896:Treatment Outcome; D051794:Von Hippel-Lindau Tumor Suppressor Protein / Q000235:genetics*; D006623:von Hippel-Lindau Disease / Q000150:complications / Q000235:genetics* / Q000473:pathology
chemical_list: D051794:Von Hippel-Lindau Tumor Suppressor Protein; C497446:VHL protein, human
keywords: fine-needle aspiration; mucoepidermoid carcinoma; parotid; von Hippel-Lindau (VHL) disease