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

• Published in: Head & neck 2017-03, Vol.39 (3), p.E51-E54
• Main Authors: Berger, Michael H., Kerr, Darcy A., Rangel Filho, Artur E., Sargi, Zoukaa B., Irish, Jonathan
• Format: Article
• Language: English
• Subjects: Adrenal Gland Neoplasms - complications; Adrenal Gland Neoplasms - genetics; Adrenal Gland Neoplasms - pathology; Adult; Biopsy, Fine-Needle; Brain Neoplasms - complications; Brain Neoplasms - genetics; Brain Neoplasms - pathology; Carcinoma, Mucoepidermoid - complications; Carcinoma, Mucoepidermoid - pathology; Carcinoma, Mucoepidermoid - surgery; Central nervous system; Female; fine‐needle aspiration; Fluorescence in situ hybridization; Follow-Up Studies; Fusion protein; Genetic Predisposition to Disease; Head and neck; Hemangioblastoma - complications; Hemangioblastoma - genetics; Hemangioblastoma - pathology; Humans; Immunohistochemistry; In Situ Hybridization; Malignancy; mucoepidermoid carcinoma; Mutation; parotid; Parotid Gland - surgery; Parotid Neoplasms - complications; Parotid Neoplasms - genetics; Parotid Neoplasms - pathology; Pheochromocytoma; Pheochromocytoma - complications; Pheochromocytoma - genetics; Pheochromocytoma - pathology; Point mutation; Risk Assessment; Treatment Outcome; Tumor cells; Tumorigenesis; Tumors; VHL protein; von Hippel-Lindau Disease - complications; von Hippel-Lindau Disease - genetics; von Hippel-Lindau Disease - pathology; Von Hippel-Lindau Tumor Suppressor Protein - genetics; von Hippel–Lindau (VHL) disease
• ISSN: 1043-3074; 1097-0347
• DOI: 10.1002/hed.24665

ABSTRACT 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. © 2016 Wiley Periodicals, Inc. Head Neck 39: E51–E54, 2017