SMARCB1/INI-1缺失性鼻腔鼻窦癌的临床诊治分析

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

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、治疗方式和生存预后。方法回顾性分析2016年10月至2021年6月首都医科大学附属北京同仁医院诊治的15例SDSC患者的临床资料,其中男性9例,女性6例,年龄25~78岁。TNM分期中T2期1例,T3期1例,T4期13例;N0期13例,N2期2例;M0期14例,M1期1例。筛窦最常受累(14/15)。5例患者接受根治性手术及术后辅助治疗,4例行新辅助化疗后手术,3例仅接受手术切除,1例新辅助化疗后同步放化疗,1例放疗后手术,1例行姑息性化疗。分析所有患者标本的免疫组化染色结果,并与同期20例INI-1蛋白表达阳性的未分化癌患者进行生存比较,Kaplan-Meier法绘制生存曲线,采用Log-rank法检验。结果免疫组化染色分析可见15例SDSC患者肿瘤细胞INI-1细胞核表达完全缺失。15例SDSC患者均获得随访信息,中位随访时间21个月(3~56个月)。3年总生存率、疾病特异性生存率、无瘤生存率和无转移生存率分别为58.9%、58.9%、36.4%和31.2%。与同期INI-1蛋白表达阳性的未分化癌患者的预后比较,无瘤生存率上SDSC患者预后更差(HR=2.87,95%CI:0.92~8.91,P=0.043),Cox回归分析显示患者进行以手术为主的综合治疗后预后更好(HR=8.61,95%CI:1.38~53.73,P=0.021)。结论SDSC具有高度侵袭性,易复发、早期转移、预后差。病理学上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。根治性手术切除辅助术后同步放化疗可能是最优选的治疗方式。

Objective To summarize the clinical features,treatments and outcomes of patients with SMARCB1(INI-1)-deficient sinonasal carcinoma(SDSC).Methods Fifteen patients who were diagnosed as SDSC in Beijing Tongren Hospital from October 2016 to June 2021 were retrieved,including nine males and six females,ranged from 25 to 78 years old.For TNM stage,one case was in stage T2,one case was in stage T3,13 cases were in stage T4;13 cases were in stage N0,two cases were in stage N2;14 cases were in stage M0,one case was in stage M1.The most common paranasal sinus affected by tumor was the ethmoid sinus.Five patients were treated by radical surgical resection combined with postoperative adjuvant therapy,four patients treated by neoadjuvant therapy with surgical resection,three patients treated by surgical resection only,one patient treated by neoadjuvant therapy with concurrent chemoradiotherapy,one patient treated by preoperative radiotherapy with surgery,and one patient received palliative chemotherapy.Immunohistochemical analysis was performed in all cases.The Kaplan-Meier method was used to draw the survival curve,and the Log-rank test was used to compare the difference to 20 undifferentiated carcinoma patients with positive INI-1 expression in the same period.Results Immunohistochemical analysis showed the complete absence of INI-1 expression in the tumor nuclei in all 15 cases.The follow-up information was available with a median follow-up time of 21 months(3-56 months).The 3-year overall survival rate,disease specific survival rate,disease-free survival rate and metastasis-free survival rate were 58.9%,58.9%,36.4%and 31.2%,respectively.Disease-free survival in SDSC patients was significantly lower compared with undifferentiated carcinoma patients with positive INI-1 expression(HR=2.87,95%CI:0.92~8.91,P=0.043).Cox regression analysis showed that patients with comprehensive treatment based on surgery had a better prognosis than others(HR=8.61,95%CI:1.38~53.73,P=0.021).Conclusion SDSC is a highly aggressive malignant tumor with the characteristics of easy recurrence,early metastasis and poor prognosis.INI-1 immunohistochemical analysis is recommended in the pathologically poorly differentiated sinonasal carcinoma.Comprehensive treatment based on radical resection may be the first choice for SDSC patients.