SMARCB1(INI1)缺失型鼻腔鼻窦癌的临床病理特征  

Clinicopathological characteristics of SMARCB1(INI1)-deficient sinonasal carcinoma

作　　者：王久阳 白玉萍[1] 邢莉[1] 朴颖实[1] 何小金[1] 岳常丽[1] 赵晓丽[1] 刘红刚[1] Wang Jiuyang;Bai Yuping;Xing Li;Piao Yingshi;He Xiaojin;Yue Changli;Zhao Xiaoli;Liu Honggang(Department of Pathology,Beijing Tongren Hospital,Capital Medical University,Beijing Key Laboratory of Head and Neck Molecular Diagnostic Pathology,Beijing 100730,China;Department of Pathology,Beijing Pinggu Hospital,Beijing 101299,China)

机构地区：[1]首都医科大学附属北京同仁医院病理科,头颈部分子病理诊断北京市重点实验室,100730 [2]北京平谷区医院病理科,101299

出　　处：《中华病理学杂志》2021年第11期1240-1245,共6页Chinese Journal of Pathology

基　　金：北京市医管局2018年度“扬帆”计划重点医学专业-头颈部病理(ZYLX201814)。

摘　　要：目的探讨SMARCB1(INI1)缺失型鼻腔鼻窦癌(SDSC)的临床病理学特点、诊断、鉴别诊断以及预后相关因素。方法收集首都医科大学附属北京同仁医院病理科2016年1月至2020年9月间确诊的SDSC 16例,并以头颈部小圆细胞型恶性肿瘤99例作为观察对照,包括鼻腔鼻窦的低分化鳞癌10例,低分化腺癌5例,未分化癌4例,睾丸核蛋白癌(NUT癌)5例,神经内分泌癌10例,嗅神经母细胞瘤10例,横纹肌肉瘤10例,NK/T细胞淋巴瘤10例,黑色素瘤10例,尤文肉瘤/原始神经外胚叶肿瘤(EWS/PNET)5例,非角化型未分化鼻咽癌20例。分析16例SDSC的临床及病理学特点,并行免疫组织化学染色标记广谱细胞角蛋白(CKpan)、细胞角蛋白(CK)7、CK8/18、CK5/6、p63、p40、INI1、NUT及神经内分泌标志物(突触素、嗜铬粒素A、CD56),EB病毒编码的RNA(EBER)原位杂交检测以及荧光原位杂交(FISH)检测INI1基因缺失。结果 16例SDSC患者占本时间段鼻腔鼻窦全部恶性肿瘤的1.3%(16/1 218),全部恶性上皮性肿瘤的2.4%(16/657)。镜下缺乏明确的鳞状及腺样分化,常可见"横纹肌样"细胞。免疫组织化学染色结果SDSC瘤细胞CKpan、CK8/18均阳性,INI1均阴性;EBER原位杂交结果均阴性;共有11例SDSC进行了FISH检测,均可见INI1基因缺失。随访12例,随访时间3~47个月,有1例于诊断后半年死于肿瘤相关疾病,余病例均带瘤存活,存活时间最长者为47个月。结论 SDSC需与鼻腔鼻窦分化差的多种肿瘤相鉴别。无明确分化的镜下形态,特征性的基底样及横纹肌样细胞、非特异性空泡、透亮或空泡状的细胞核、明显的核仁及坏死灶、免疫组织化学染色INI1阴性以及FISH检测INI1基因缺失等为其病理改变特点,并为其诊断及鉴别诊断依据,临床预后尚不明确。其生物学行为及治疗方式有待深入探讨。Objective To investigate the clinicopathological characteristics,diagnosis,differential diagnosis and prognostic factors of SMARCB1(INI1)-deficient sinonasal carcinoma(SDSC).Methods Sixteen cases of SDSC diagnosed in the Department of Pathology,Beijing Tongren Hospital from January 2016 to September 2020 were enrolled.Ninety-nine cases of small round cell malignant tumors of the head and neck were selected as the control,including poorly-differentiated squamous cell carcinoma(n=10),poorly-differentiated adenocarcinoma(n=5),undifferentiated carcinoma(SNUC,n=4),NUT carcinoma(n=5),neuroendocrine carcinoma(n=10),and other non-epithelial tumors[olfactory neuroblastoma(n=10),rhabdomyosarcoma(n=10),NK/T-cell lymphoma(n=10),malignant melanoma(n=10),Ewing′s sarcoma/primitive neuroectodermal tumor(EWS/PNET,n=5)]and non-keratinizing undifferentiated nasopharyngeal carcinoma(n=20).The clinical and pathologic characteristics of SDSC,and immunohistochemical(IHC)expression of broad-spectrum CKpan,CK7,CK8/18,CK5/6,p63,p40,p16,INI1,NUT and neuroendocrine markers(Syn,CgA,CD56)were evaluated.In situ hybridization(ISH)was used to detect EBER and fluorescence in situ hybridization(FISH)to detect INI1 gene deletion.Results The 16 cases of SDSC accounted for 1.3%(16/1218)of all malignant sinonasal tumors in the author′s unit during this time period,and 2.4%(16/657)of all malignant epithelial tumors.Microscopically,there was no clear squamous and adenomatous differentiation,but"rhabdoid-like"cells,are often seen.All SDSC cases were positive for CKpan and CK8/18,negative for INI1;Epstein-Barr virus was not detected by ISH;and INI1 gene deletion was observed in all 11 SDSC patients with FISH.Twelve cases were followed up for 3-47 months.One died of tumor-related diseases half a year after diagnosis,and the remaining patients were alive with tumor,the longest survival time was 47 months.Conclusion SDSC should be differentiated from a variety of poorly-differentiated tumors in the sinonasal area.Histologically,SDSC has no clear differen

关 键 词：鼻窦肿瘤 免疫组织化学 病理学 分子 

分 类 号：R739.62[医药卫生—肿瘤]