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.
摘要：
Peutz-Jeghers综合征是一种罕见的遗传性肠息肉病综合征，与皮肤粘膜色素沉着有关。Peutz-Jeghers综合征已知表现出可变的外显率和临床异质性。它可以涉及各种器官并导致肠道和肠外恶性肿瘤。鼻窦内翻性乳头状瘤是一种起源于鼻腔和鼻旁窦的良性肿瘤。它的特点是高复发和恶性转化；然而，确切的发病机制和危险因素尚不清楚.最近,我们在一名Peutz-Jeghers综合征患者中遇到了1例鼻腔鼻窦内翻性乳头状瘤。尽管我们进行了分子遗传学研究来评估STK11/LKB1突变，我们无法提供鼻窦内翻性乳头状瘤和Peutz-Jeghers综合征之间关联的直接证据.根据我们的经验,我们在此尝试介绍Peutz-Jeghers综合征和基于先前报道的病例的上呼吸道潜在受累情况.
