原发性SMARCA4缺失性鼻腔鼻窦癌1例并文献复习

A Case of Primary SMARCA4-Deregulated Nasal and Paranasal Sinus Carcinoma with Literature Review

摘要: 目的：探讨原发性SMARCA4缺失性鼻腔鼻窦癌的临床特点、诊断及治疗挑战。方法：回顾性分析1例老年男性原发性SMARCA4缺失性鼻腔鼻窦癌患者的诊疗过程。结果：患者因“鼻出血”就诊，影像学提示鼻腔鼻窦肿物，经活检病理及免疫组化确诊为原发性SMARCA4缺失性鼻腔鼻窦癌。因高龄、肿瘤高侵袭性及合并症多，家属选择中医中药保守治疗。结论：原发性SMARCA4缺失性鼻腔鼻窦癌是一种极为罕见且高度恶性的肿瘤，其临床表现无特异性，易误诊，诊断金标准为组织病理及免疫组化(BRG1缺失)。临床医生应对老年鼻腔鼻窦肿物患者提高警惕，尽早行病理检查以明确诊断，并依托多学科团队制定个体化治疗方案。

Abstract: Objective: To explore the clinical characteristics, diagnosis, and treatment challenges of Primary SMARCA4-deficient nasal and paranasal sinus carcinoma. Methods: A retrospective analysis was conducted on the diagnosis and treatment process of a male elderly patient with Primary SMARCA4-deficient nasal and paranasal sinus carcinoma. Result: The patient was admitted for “epistaxis”. Imaging revealed a nasal sinus mass, which was confirmed as a SMARCA4-deficient undifferentiated tumor through biopsy pathology and immunohistochemistry. Due to the patient’s advanced age, highly aggressive tumor, and multiple comorbidities, the family opted for conservative treatment with traditional Chinese medicine. Conclusion: Primary SMARCA4-deficient nasal and paranasal sinus carcinoma is an extremely rare and highly malignant tumor with non-specific clinical manifestations, making it prone to misdiagnosis. The gold standard for diagnosis is histopathology and immunohistochemistry (BRG1 deficiency). Clinicians should remain vigilant in elderly patients with nasal cavity and sinus masses, promptly performing pathological examinations for definitive diagnosis and developing individualized treatment plans with a multidisciplinary team.