胸部SMARCA4缺失的未分化肿瘤22例临床病理分析  

Clinicopathological analysis of 22 cases with SMARCA4-dificient in the chest undifferentiated tumors

作　　者：吴方君 肖伟进 彭然 陈雪燕[1] 朱伟峰[1] 翁秀琴 林根[3] 力超[1,4] WU Fang-jun;XIAO Wei-jin;PENG Ran;CHEN Xue-yan;ZHU Wei-feng;WENG Xiu-qing;LIN Gen;LI Chao(Department of Pathology,Fujian Medical University Cancer Hospital/Fujian Cancer Hospital,Fuzhou 350014,China;School of Basic Medical Sciences,Fujian Medical University,Fuzhou 350000,China;Department of Thoracic Medicine,Fujian Medical University Cancer Hospital/Fujian Cancer Hospital,Fuzhou 350014,China;Fujian Key Laboratory of Translational Cancer Medicine,Fuzhou 350014,China)

机构地区：[1]福建医科大学附属肿瘤医院/福建省肿瘤医院病理科,福州350014 [2]福建医科大学基础医学院,福州350000 [3]福建医科大学附属肿瘤医院/福建省肿瘤医院胸部肿瘤内科,福州350014 [4]福建省肿瘤转化医学重点实验室,福州350014

出　　处：《临床与实验病理学杂志》2022年第8期948-952,共5页Chinese Journal of Clinical and Experimental Pathology

基　　金：国家自然基金面上项目(82072565);福建省自然科学基金(2021J01432)。

摘　　要：目的 探讨胸部SMARCA4缺失的未分化肿瘤(SMARCA4-dificient undifferentiated tumor,SMARCA4-UT)的临床病理学特征及分子特点。方法 采用免疫组化法检测22例胸部SMARCA4-UT中CK、CD34、SOX-2、vimentin、BRG1、INI-1、BRM1、SALL4、TTF-1、PD-L1的表达;应用二代测序技术检测3例胸部SMARCA4-UT中基因突变情况,并复习相关文献。结果 22例患者中男性21例,女性1例,中位年龄65岁。镜检:17例胸部SMARCA4-UT呈实性片状或条索状生长,坏死明显,大部分肿瘤细胞呈横纹肌样形态,细胞间失黏附,可见病理性核分裂象;部分呈上皮样细胞形态,3例呈差分化癌与少量腺癌成分毗邻存在;2例具有鳞状上皮分化倾向,但无角化。免疫表型:肿瘤细胞BRG1有21例阴性,1例阳性。3例行二代测序检测,均检测到SMARCA4突变(无义突变)和TP53突变。其中1例同时检测到TSC2、ROS1和ATM突变。结论 胸部SMARCA4-UT是一种罕见的恶性肿瘤,预后差。组织学多具有横纹肌样形态,少量病例表现为差分化癌与分化较好的非小细胞肺癌混合存在,并具有特征性免疫表型和分子特点。Purpose To investigate the clinicopathological and molecular characteristics of thoracic SMARCA4-dificient undifferentiated tumor(SMARCA4-UT).Methods The expression of CK,CD34,SOX-2,vimentin,BRG1,INI-1,BRM1,SALL4,TTF-1,PD-L1 in 22 cases of thoracic MARCA4-UT was detected by immunohistochemistry,and targeted next generation sequencing was performed in 3 of them.Results Twenty-one male and 1 female patients presented with median age of 65 years.Histologically,tumor cells formed solid sheets or anastomosing islands accompanying with large areas of necrosis in 17 cases.The tumor cells showed discohesive growth of round and rhabdoid cells with prominent nucleoli.3 cases were composite tumors harbouring both types of tumor morphologies(differentiated carcinomatous areas contiguous with dedifferentiated sarcomatoid areas).2 cases had a tendency of squamous metaplasia with no keratinosis.Immunohistochemically,SMARCA4 was negative in 21 cases and partially positive in 1 case.Among 3 cases analyzed by targeted next generation sequencing,concurrent SMARCA4 and p53 mutation was detected in all 3 cases.Mutations of TSC2,ROS1 and ATM were also detected in one of the cases.Conclusion Thoracic SMARCA4-UT is a rare malignant tumor with poor prognosis.It has distinctive histological,immunohistochemical and molecular phenotype.Most cases show undifferentiated or rhabdoid morphology.However,a few cases show a combined histology with conventional non-small cell lung cancer.

关 键 词：胸部肿瘤 SMARCA4缺失 免疫组织化学 二代测序 

分 类 号：R734.2[医药卫生—肿瘤]