Whole exome sequencing identifies risk variants associated with intracranial epidermoid cyst deterioration:A case report  

作　　者：Zhao-Na Song Yan Cheng Dan-Dan Wang Ming-Jun Li Xiang-Rong Zhao Fa-Wang Li Zhen Liu Xiao-Ru Zhu Xiao-Dong Jia Yu-Fang Wang Feng-Fan Liang 

机构地区：[1]Joint Laboratory for Translational Medicine Research,Liaocheng People's Hospital,Liaocheng 252000,Shandong Province,China [2]Harbin Genars Technology Co.,Ltd.,Harbin 150060,Heilongjiang Province,China [3]Department of Radiotherapy,Liaocheng People's Hospital,Liaocheng 252000,Shandong Province,China [4]Department of Medical laboratory,Qilu Hospital of Shandong University Dezhou Hospital,Dezhou 253600,Shandong Province,China

出　　处：《World Journal of Clinical Oncology》2024年第11期1428-1434,共7页世界临床肿瘤学杂志（英文）

摘　　要：BACKGROUND Intracranial epidermoid cyst(IEC)transformation to malignant squamous cell carcinoma(SCC)is extremely rare,and its etiology is yet unknown.Currently,SCC is treated by performing surgery,followed by a combination of radiotherapy and chemotherapy.It is crucial to identify efficient and trustworthy therapeutic targets for SCC to improve its diagnosis,prognosis,and treatment.CASE SUMMARY In this study,we report the case of a 47-year-old female patient with SCC,which progressed from IEC in the left internal capsule region.The patient was sought treatment at our hospital for severe diplopic vision,accompanied with speech disorder and memory loss.Based on the clinical and postoperative pathology,this patient was finally diagnosed with SCC.To identify disease-causing variants,whole exome sequencing(WES)was performed on the proband.WES revealed two pathogenic missense mutations on Gap junction protein beta 2(GJB2)(c.257C>T)and Toll-like receptor 2(TLR2)(c.1039A>G),respectively.CONCLUSION This study provided the first clinical evidence for demonstrating the role of GJB2 and TLR2 in IEC development and treatment.We further confirmed WES as a robust and reliable technique for underlying rare and complex disease-related genetic factor identification.

关 键 词：Intracranial epidermoid cyst Squamous cell carcinoma Whole exome sequencing VARIANTS Case report 

分 类 号：R730[医药卫生—肿瘤]