扁桃体鳞状细胞癌临床病理分析及全外显子测序分析  

Primary tonsil squamous cell carcinoma:clinicopathological and whole exome sequencing analysis

作　　者：陈星[1] 帅立雄 展瑞[3] CHEN Xing;SHUAI Lixiong;ZHAN Rui(Department of Radiology,Suzhou Wuzhong People’s Hospital,Suzhou 215128,China;Department of Pathology,the Second Affiliated Hospital of Soochow University,Suzhou 215004,China;Department of Pathology,Suzhou Ninth Hospital Affiliated to Soochow University,Suzhou 215200,China)

机构地区：[1]苏州市吴中人民医院放射科,苏州215128 [2]苏州大学附属第二医院病理科,苏州215004 [3]苏州大学附属苏州九院病理科,苏州215200

出　　处：《临床与实验病理学杂志》2024年第1期66-71,共6页Chinese Journal of Clinical and Experimental Pathology

基　　金：苏州市第九人民医院院级科研基金(YK202217)。

摘　　要：目的探讨扁桃体鳞状细胞癌(tonsil squamous cell carcinoma,TSCC)的临床病理学特征、全外显子突变和肿瘤突变负荷(tumor mutational burden,TMB)。方法回顾性分析10例TSCC临床病理特征,采用EnVision两步法检测CK(AE1/AE3)、CK5/6、p63、p40、p16和Ki67等蛋白的表达,并对其中3例TSCC病例行全外显子组测序及TMB分析。结果10例患者中,男性6例,女性4例,年龄43~76岁,光镜下癌细胞呈巢状和不规则条索状浸润至隐窝上皮下,伴有粉刺样坏死,见细胞间桥及多少不一的角化,异型性明显,核分裂象易见。随访6~45个月,9例存活。免疫表型:CK(AE1/AE3)、CK5/6、p63和p40均阳性,3例p16弥漫强阳性,Ki67增殖指数40%~90%。3例TSCC的全外显子组测序结果显示ARID1B、LRP6等为常见的癌症易感基因,WDFY4、ZFHX4基因表现出较高的突变比例,均为3/3。TMB分析结果显示3例突变中1例TMB值>9 mut/Mb。结论TSCC早期症状不明显,容易漏诊误诊。全外显子组测序结果显示WDFY4、ZFHX4基因存在较高的突变率。TMB结果提示TSCC部分患者可在免疫治疗中获益。Purpose To explore the clinicopathological characteristics of tonsil squamous cell carcinoma(TSCC),and to explore the whole exome mutations and tumor mutational burden(TMB)in TSCC cases.Methods Ten patients with clinically and histopathologically confirmed TSCC and their clinicopathological characteristics were collected,The expression of CK(AE1/AE3),CK5/6,p63,p40,p16 and Ki67 were measured by two steps of EnVision,and the whole exome sequencing(WES)and TMB were conducted in 3 of them.Results Among the 10 patients,there were 6 females and 4 males which aged from 43 to 76 years old.Microscopically,the cancer cells infiltrated into the subdermis of crypts in the form of nests and irregular cord,accompanied by comedo like necrosis,intercellular bridges,and varying degrees of keratinization.Obvious atypia and mitotic figures were easily seen.Follow-up was available in all cases,ranging from 6 to 45 months.Nine cases had survived.Immunohistochemistry staining showed that all cases were positive for CK(AE1/AE3),CK5/6,p63,p40,and p16 was positively expressed in three cases,and the proliferation index Ki67 ranged from 40% to 90%.The WES of three cases showed that ARID1B and LRP6 were common cancer susceptibility genes,and WDFY4,ZFHX4 exhibited higher mutation rates,which were both 3/3.The TMB analysis showed that one out of three cases was>9 mut/Mb.Conclusion The early symptoms of TSCC are not obvious that lead to easily missed and misdiagnosed.The WES analyses suggest that WDFY4 and ZFHX4 had a higher mutation rate.The TMB analysis suggests that some TSCC patients may benefit from immunotherapy.

关 键 词：扁桃体鳞状细胞癌 外显子测序 临床病理 免疫组织化学 

分 类 号：R739.64[医药卫生—肿瘤]