Oncocytoma of the Parotid Gland in the Setting of Birt-Hogg-Dube Syndrome

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Authors: Vincent S Alexander, Brenton Stucki, Andrew D. Vogel, Wang L. Cheung, Alyssa Obermiller, Kavita M. Pattani
Cited by: 1
References: 14

Abstract

Birt-Hogg-Dubé syndrome (BHD) is a rare autosomal dominant disorder caused by germline mutations in the FLCN gene, characterized by cutaneous fibrofolliculomas, pulmonary cysts, and an increased risk of renal neoplasms. Parotid oncocytoma is an infrequently reported extracutaneous manifestation of the syndrome. A 30-year-old man with a prior history of testicular embryonal cell carcinoma presented with a right-sided neck mass. Workup of the parotid lesion ultimately led to a new diagnosis of BHD, confirmed by FLCN germline mutation testing. The patient underwent right parotidectomy, which was technically complex due to parapharyngeal extension and adherence to the facial nerve. Final pathology confirmed oncocytoma with clear cell features; all three lymph nodes were negative for metastatic carcinoma. The patient has remained without evidence of disease at over two years of postoperative follow-up. This case illustrates the diagnostic challenges posed by BHD-associated parotid oncocytoma, particularly when clear cell morphology raises concern for metastatic renal cell carcinoma or recurrent germ cell tumor. Clinicians should consider BHD in younger patients presenting with oncocytic parotid tumors, as recognition carries important implications for long-term renal and pulmonary surveillance.

Fields of Study & Subjects

Renal cell carcinoma treatment Multiple and Secondary Primary Cancers Tuberous Sclerosis Complex Research

Publication details

Journal / source
Ear Nose & Throat Journal
Publisher
SAGE Publications
Pages
1455613261455175–1455613261455175
Publication date
20 May 2026
Language
EN