Objective: To investigate the role of PTCH1 in epithelial-mesenchymal transition (EMT) and the development of chronic sinusitis with nasal polyps (CRSwNP). Methods: A total of 240 nasal polyps from CRSwNP patients were collected as experimental group, while nasal mucosa tissues from 30 patients with deviated nasal septum were collected as control group. They were all diagnosed at Beijing Chaoyang Hospital, Beijing, China from 2015 to 2023. Fifty-two CRSwNP samples were subjected to targeted next-generation sequencing. The effect of PTCH1 on the proliferation of nasal mucosal epithelial cells was detected using cell culture and the CCK8 assay. The expression of PTCH1, EMT markers (including E-cadherin, vimentin, and SMA) and the EMT-related transcription factor Snail/Slug were assessed using immunohistochemical staining. Results: Among the 240 cases of CRSwNP, 179 were male and 61 were female, with an average age of 49 (18, 72) years. Among the 30 cases of deviated nasal septum, 19 were male and 11 were female, age 42 (19, 75) years old. Targeted next-generation sequencing revealed that the mutation rate of PTCH1 in CRSwNP was 7.7% (4/52),which was significantly higher than the mutation frequency of less than 1% in the database of normal individuals. Cell culture and CCK8 assay showed that PTCH1 mutation could promote the proliferation of nasal mucosal epithelial cells. Immunohistochemical staining showed that 116 cases(116/240) CRSwNP were moderately to strongly positive for PTCH1, 114 cases (114/240) were weakly positive, and 10 cases (10/240) were negative. Two hundred and one of the 240 cases were weakly positive for E-cadherin, 4 cases (4/240) were moderately positive and 35 cases (35/240) were negative. Vimentin, SMA, Snail and Slug all showed various degrees of positive expression. Meanwhile, expression of PTCH1 was elevated in CRSwNP and correlated with the expression of Snail/Slug (r=0.776, P<0.01; r=0.767, P<0.01, respectively). Conclusions: PTCH1 mutation is an important genetic variant in CRSwNP. PTCH1 mutation activates the Hedgehog signaling pathway and promotes the EMT process by upregulating the expression of the transcription factor Snail/Slug, while PTCH1 mutation also directly promotes the proliferation of nasal mucosal epithelial cell. Both processes/pathways are involved in the development of CRSwNP and have the potential to become the targets for the future clinical therapy of CRSwNP. 目的： 探讨PTCH1诱导上皮间质转化（EMT）过程以及参与慢性鼻窦炎伴鼻息肉（CRSwNP）发生发展的作用及机制。 方法： 收集首都医科大学附属北京朝阳医院2015—2023年诊断的240例CRSwNP患者鼻息肉组织样本作为实验组；30例鼻中隔偏曲患者鼻黏膜组织作为对照组。对52例CRSwNP样本进行靶向二代测序检测基因变异。通过细胞培养及CCK8实验检测突变基因PTCH1对鼻黏膜上皮细胞增殖的影响。通过免疫组织化学染色检测突变基因PTCH1、EMT标志物（E-cadherin、波形蛋白、SMA）及EMT相关转录因子Snail/Slug在CRSwNP中的表达。 结果： 240例CRSwNP中男性179例，女性61例，年龄49（18，72）岁；30例鼻中隔偏曲中男性19例，女性11例，年龄42（19，75）岁。靶向二代测序发现CRSwNP中PTCH1的突变率为7.7%（4/52），对比正常人数据库中，该基因突变频率小于1%。细胞培养和CCK8实验显示PTCH1突变可以促进鼻黏膜上皮细胞增殖。免疫组织化学染色显示CRSwNP中116例（116/240）PTCH1呈中等及强阳性表达，114例（114/240）呈弱阳性表达，10例（10/240）阴性表达；201例（201/240）E-cadherin呈弱阳性表达，35例（35/240）呈阴性表达，4例（4/240）呈中等阳性表达。波形蛋白、SMA、Snail和Slug均呈现不同程度的阳性表达。同时，统计学分析显示PTCH1表达与转录因子Snail/Slug的表达呈正相关（r=0.776，P<0.01；r=0.767，P<0.01）。 结论： PTCH1突变是CRSwNP重要的基因变异。PTCH1突变激活Hedgehog信号通路，可能通过上调转录因子Snail/Slug的表达促进EMT过程，同时PTCH1突变促进鼻黏膜上皮细胞增殖，二者共同参与CRSwNP的发生发展，有可能成为未来临床治疗的靶点。.
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