目的 总结SMARCB1/INI?1缺失性鼻腔鼻窦癌［SMARCB1（INI?1）Deficient Sinonasal Carcinoma，SDSC］的临床特征、组织形态、免疫组化表达、诊断、鉴别诊断、治疗及随访状况，提高对该病的认识。方法 对我院诊治的1例SDSC患者的临床及病理相关资料进行整理，回顾性分析相关文献。结果 患者女性，59岁；TNM分期：T3N0M0；CT和MR显示右侧鼻腔及筛窦内占位，伴骨质破坏；组织学见肿瘤细胞形态较为一致，伴轻度多形性，呈上皮样或基底细胞样形态，核分裂像较易见，未见明显鳞状或腺样分化特征，肿瘤周边可见少许残留的正常黏膜上皮；免疫组化染色分析见肿瘤细胞INI?1细胞核表达完全缺失。结论 SDSC是鼻窦未分化癌的一种新亚型，较为罕见；具有高度侵袭性，易复发、早期转移、预后差特点；形态学分化差的鼻腔鼻窦癌行INI?1免疫组化检测，有助于该亚类的准确诊断；术前TPF化疗方案有助于病灶缩小，有助于根治性手术切除。
Objective To Summary the clinical characteristics, histological morphology, immunophenotype, diagnostic features, differential diagnosis, treatment and follow-up of SMARCB1 (INI1)?deficient sinonasal carcinoma (SDSC), and deepen the understanding of this disease. Methods The clinicopathologic data of one SDSC patient diagnosed and treated in Hospital were collected and analyzed and literatures were reviewed. Results An 59-year-old woman was diagnosed with T3 stage, the imaging of computer tomography and magnetic resonance showed a mass occupying the right nasal cavity and ethmoid sinus with bone destruction. Microscopically, the tumor cells were composed of epithelioid or basal cell-like morphology, most were consistent with mild pleomorphism, The mitotic image was easy to see, no obvious squamous or adenoid differentiation was observed, and a few residual normal mucosal epithelium could be seen around the tumor. Immunohistochemical staining showed that INI-1 nuclear expression was completely absent in tumor cells. Conclusions SDSC is a rare and new subtype of undifferentiated carcinoma of sinuses. It is highly invasive with rapid progression, relapse, early metastasis and poor prognosis. INI-1 immunohistochemical detection was performed for the poorly differentiated carcinoma of sinonasal, which was helpful for the accurate diagnosis of this subcategory. Preoperative TPF chemotherapy helps to shrink the lesion and facilitate radical surgical excision.