Peutz-Jeghers syndrome and sinonasal diseases: A case report and literature reviewopen access
- Authors
- Park, Seung Yong; Kim, Kyung Soo; Min, Hyun Jin
- Issue Date
- Sep-2022
- Publisher
- SAGE PUBLICATIONS INC
- Keywords
- Peutz-Jeghers syndrome; sinonasal inverted papilloma; STK11; LKB1
- Citation
- ENT-EAR NOSE & THROAT JOURNAL
- Journal Title
- ENT-EAR NOSE & THROAT JOURNAL
- URI
- https://scholarworks.bwise.kr/cau/handle/2019.sw.cau/71095
- DOI
- 10.1177/01455613221116325
- ISSN
- 0145-5613
1942-7522
- Abstract
- Peutz-Jeghers syndrome is an unusual inherited intestinal polyposis syndrome associated with distinct mucocutaneous pigmentation. Peutz-Jeghers syndrome is known to show variable penetrance and clinical heterogeneity. It can involve various organs and lead to intestinal and extra-intestinal malignancies. Sinonasal inverted papilloma is a benign tumor originating from the nasal cavity and paranasal sinuses. It is characterized by high recurrence and malignant transformation; however, the exact pathogenesis and risk factors remain unclear. Recently, we encountered a case of sinonasal inverted papilloma in a patient with Peutz-Jeghers syndrome. Although we performed a molecular genetic study to evaluate the STK11/LKB1 mutation, we could not provide direct evidence of the association between sinonasal inverted papilloma and Peutz-Jeghers syndrome. Based on our experience, we here tried to introduce Peutz-Jeghers syndrome and the potential involvement of the upper airway tract based on previously reported cases.
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