Song ZN, Cheng Y, Wang DD, Li MJ, Zhao XR, Li FW, Liu Z, Zhu XR, Jia XD, Wang YF, Liang FF. Whole exome sequencing identifies risk variants associated with intracranial epidermoid cyst deterioration: A case report. World J Clin Oncol 2024; 15(11): 1428-1434 [DOI: 10.5306/wjco.v15.i11.1428]
Corresponding Author of This Article
Feng-Fan Liang, Doctor, Attending Doctor, Department of Radiotherapy, Liaocheng People's Hospital, Dongchang Road, Liaocheng 252000, Shandong Province, China. heroliang25@sina.com
Research Domain of This Article
Genetics & Heredity
Article-Type of This Article
Case Report
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Zhao-Na Song, Yan Cheng, Xiao-Dong Jia, Joint Laboratory for Translational Medicine Research, Liaocheng People's Hospital, Liaocheng 252000, Shandong Province, China
Ming-Jun Li, Xiang-Rong Zhao, Yu-Fang Wang, Feng-Fan Liang, Department of Radiotherapy, Liaocheng People's Hospital, Liaocheng 252000, Shandong Province, China
Fa-Wang Li, Department of Medical laboratory, Qilu Hospital of Shandong University Dezhou Hospital, Dezhou 253600, Shandong Province, China
Co-first authors: Zhao-Na Song and Yan Cheng.
Co-corresponding authors: Yu-Fang Wang and Feng-Fan Liang.
Author contributions: Song ZN and Cheng Y contributed to data analysis and writing of the manuscript; Li MJ, Zhao XR and Li FW contributed to data collection and interpretation; Wang DD, Liu Z and Zhu XR provided technical support; Liang FF, Wang YF and Jia XD contributed to study design and critical revision of the manuscript; all of the authors read and approved the final version of the manuscript to be published.
Informed consent statement: We obtained informed written consent from the patient to publish this case report and any accompanying Figures.
Conflict-of-interest statement: The authors declare that they have no conflict of interest to disclose.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Received: April 19, 2024 Revised: September 11, 2024 Accepted: September 25, 2024 Published online: November 24, 2024 Processing time: 177 Days and 22.9 Hours
Abstract
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.
Core Tip: Intracranial epidermoid cyst (IEC) malignant transformation is an uncommon lesion, accompanied by the spread of tumor cells, resulting in a poor prognosis. In this report, we present the case of a 47-year-old woman who was diagnosed with a malignant transition from IEC to squamous cell carcinoma. After surgical resection and chemoradiotherapy, the patient's condition was effectively controlled. It's noteworthy that whole exome sequencing revealed the significant role of Gap junction protein beta 2 and Toll-like receptor 2 in IEC development.
