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.
| Original language | English (US) |
|---|---|
| Pages (from-to) | E51-E54 |
| Journal | Head and Neck |
| Volume | 39 |
| Issue number | 3 |
| DOIs | |
| State | Published - Mar 1 2017 |
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Keywords
- fine-needle aspiration
- mucoepidermoid carcinoma
- parotid
- von Hippel–Lindau (VHL) disease
ASJC Scopus subject areas
- Otorhinolaryngology
Cite this
Case of parotid mucoepidermoid carcinoma : Expanding the spectrum of von Hippel-Lindau–related neoplasms. / Berger, Michael H.; Kerr, Darcy; Rangel Filho, Artur E.; Sargi, Zoukaa B.
In: Head and Neck, Vol. 39, No. 3, 01.03.2017, p. E51-E54.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Case of parotid mucoepidermoid carcinoma
T2 - Expanding the spectrum of von Hippel-Lindau–related neoplasms
AU - Berger, Michael H.
AU - Kerr, Darcy
AU - Rangel Filho, Artur E.
AU - Sargi, Zoukaa B
PY - 2017/3/1
Y1 - 2017/3/1
N2 - 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.
AB - 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.
KW - fine-needle aspiration
KW - mucoepidermoid carcinoma
KW - parotid
KW - von Hippel–Lindau (VHL) disease
UR - http://www.scopus.com/inward/record.url?scp=85007107475&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85007107475&partnerID=8YFLogxK
U2 - 10.1002/hed.24665
DO - 10.1002/hed.24665
M3 - Article
C2 - 28006088
AN - SCOPUS:85007107475
VL - 39
SP - E51-E54
JO - Head and Neck
JF - Head and Neck
SN - 1043-3074
IS - 3
ER -