临床与实验病理学杂志2024，Vol.40Issue(1)：66-71,6.DOI:10.13315/j.cnki.cjcep.2024.01.015
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
摘要
Abstract
Purpose To explore the clinicopathological characteristics of tonsil squamous cell carcinoma(TSCC),and to explore the whole exome mutations and tumor mutational bur-den(TMB)in TSCC cases.Methods Ten patients with clini-cally and histopathologically confirmed TSCC and their clinico-pathological characteristics were collected,The expression of CK(AE1/AE3),CK5/6,p63,p40,p16 and Ki67 were meas-ured by two steps of EnVision,and the whole exome sequencing(WES)and TMB were conducted in 3 of them.Results A-mong 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 ofnests and irregular cord,accompanied by comedo like necrosis,intercellu-lar bridges,and varying degrees of keratinization.Obvious atyp-ia and mitotic figures were easily seen.Follow-up was available in all cases,ranging from 6 to 45 months.Nine cases had sur-vived.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 misdiag-nosed.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Key words
tonsil squamous cell carcinoma/exons sequencing/clinical pathology/immunohistochemistry分类
医药卫生引用本文复制引用
陈星,帅立雄,展瑞..扁桃体鳞状细胞癌临床病理分析及全外显子测序分析[J].临床与实验病理学杂志,2024,40(1):66-71,6.基金项目
苏州市第九人民医院院级科研基金(YK202217) （YK202217）
