| Peripheral nerve sheath tumors in the head and neck in patients with APC gene deletion mutations: a case report and scoping review of the literature |
Koral Blunt1 
, Monirah Albathi2, Miriam Conces2, Tendy Chiang2 |
1The Ohio State University College of Medicine, Columbus, United States
2Nationwide Children's Hospital, Columbus, United States |
Correspondence:
Koral Blunt, Email: koral.blunt@osumc.edu
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Received: 10 September 2024 • Revised: 1 January 2025 • Accepted: 1 January 2025 |
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| Abstract |
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Adenomatous Polyposis Coli (APC) is a tumor suppressor gene expressed throughout the body. APC mutations increase the risk of malignancy and are often characterized by syndromes that encompass a spectrum of neoplastic manifestations, such as familial adenomatous polyposis (FAP). We present a rare case of palatal peripheral nerve sheath tumor in the context of APC gene mutation. A 17-year-old male with a significant history of FAP presented to our clinic for with globus sensation for 5 months with increasing discomfort. Flexible nasolaryngoscopy revealed a pedunculated lesion attached to the posterior surface of the soft. Imaging was obtained and confirmed a soft tissue homogenous mass contiguous with the soft palate. Endoscopic-assisted transoral resection was performed and pathologic features were consistent with schwannoma. We also discuss the spectrum of benign neoplastic lesions. Current literature fails to describe pharyngeal masses in the setting of APC gene mutations. The purpose of this case report is to describe a patient presentation of a symptomatic pharyngeal tumor with a known APC gene mutation and explore the differential diagnoses that must be considered. |
| Key Words:
Schwannoma, APC gene, Gardner syndrome, Familial adenomatous polyposis |
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