Head & neck · 2016
Case of parotid mucoepidermoid carcinoma: Expanding the spectrum of von Hippel-Lindau-related neoplasms.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Berger Michael H, Kerr Darcy A, Rangel Filho Artur E, Sargi Zoukaa B
Аннотация
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.
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.
Предметные рубрики MeSH
Adrenal Gland NeoplasmsAdultBiopsy, Fine-NeedleBrain NeoplasmsCarcinoma, MucoepidermoidFemaleFollow-Up StudiesGenetic Predisposition to DiseaseHemangioblastomaHumansImmunohistochemistryIn Situ HybridizationMutationParotid GlandParotid NeoplasmsPheochromocytomaRisk AssessmentTreatment OutcomeVon Hippel-Lindau Tumor Suppressor Proteinvon Hippel-Lindau Disease