SMARCB1(INI-1)缺失性鼻腔鼻窦癌的诊疗进展

Progress in the diagnosis and treatment of patients with SMARCB1(INI-1)-deficient sinonasal carcinoma

SMARCB1(INI-1)缺失性鼻腔鼻窦癌(SDSC)是一类罕见的鼻腔鼻窦恶性肿瘤,具有高度侵袭性。免疫组化染色检测细胞核中INI-1蛋白表达缺失是诊断SDSC最具价值的方法,由于临床表现的非特异性,大多数患者被确诊为该疾病时已处于晚期,极大程度地降低了患者的生存率及生存质量。手术完整切除肿物、术后辅以放/化疗的综合治疗模式是目前临床工作中的主要治疗手段,但仍有较高的复发率及死亡率。而新辅助治疗以及靶向治疗对于该疾病的有效性仍处于临床试验阶段。因此,早期诊断及探索最佳的治疗策略对患者至关重要。本文就SDSC的诊断及治疗进展进行综述,以助于提高对此类罕见肿瘤类型的临床认知。

SMARCB1(INI-1)-deficient sinonasal carcinoma(SDSC)is a rare and highly aggressive malignancy of the nasal cavity and paranasal sinuses.Immunohistochemical staining to detect the loss of INI-1 protein expression in the nucleus is the most valuable method for the diagnosis of SDSC.Due to the non-specific clinical manifestations,most patients are diagnosed with the disease at an advanced stage,which greatly reduces the survival rate and quality of life of patients.The main treatment means in clinical work are the comprehensive treatment mode of complete surgical resection of the tumor,postoperative adjuvant radiotherapy,an chemotherapy.However,there is still a high recurrence rate and mortality.The effectiveness of neoadjuvant therapy and targeted therapy for this disease is still in clinical trials.Therefore,the early diagnosis of the disease and the exploration of the best treatment strategies are critical for patients.This paper reviews the progress in the diagnosis and treatment of SDSC,which is helpful to improve the clinical cognition of this rare tumor.