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

IF 2.6 Q3 ONCOLOGY

World journal of clinical oncology Pub Date : 2024-11-24 DOI:10.5306/wjco.v15.i11.1428

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

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引用次数: 0

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.

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全外显子测序发现与颅内表皮样囊肿恶化有关的风险变异：病例报告

背景：颅内表皮样囊肿（IEC）转化为恶性鳞状细胞癌（SCC）极为罕见，其病因至今不明。目前，治疗颅内表皮样囊肿的方法是进行手术，然后结合放疗和化疗。病例摘要：本研究报告了一例 47 岁女性 SCC 患者的病例，该病例由左侧内囊区的 IEC 演变而来。患者因严重复视，伴有语言障碍和记忆力减退到我院就诊。根据临床和术后病理结果，该患者最终被确诊为 SCC。为了确定致病变异，我们对该患者进行了全外显子组测序（WES）。WES发现了两个致病性错义突变，分别是间隙连接蛋白β2（GJB2）（c.257C>T）和Toll样受体2（TLR2）（c.1039A>G）：本研究为证明 GJB2 和 TLR2 在 IEC 发育和治疗中的作用提供了首个临床证据。我们进一步证实了 WES 是一种稳健可靠的潜在罕见复杂疾病相关遗传因子鉴定技术。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

World journal of clinical oncology ONCOLOGY-

自引率

0.00%

发文量

585

期刊介绍： The WJCO is a high-quality, peer reviewed, open-access journal. The primary task of WJCO is to rapidly publish high-quality original articles, reviews, editorials, and case reports in the field of oncology. In order to promote productive academic communication, the peer review process for the WJCO is transparent; to this end, all published manuscripts are accompanied by the anonymized reviewers’ comments as well as the authors’ responses. The primary aims of the WJCO are to improve diagnostic, therapeutic and preventive modalities and the skills of clinicians and to guide clinical practice in oncology. Scope: Art of Oncology, Biology of Neoplasia, Breast Cancer, Cancer Prevention and Control, Cancer-Related Complications, Diagnosis in Oncology, Gastrointestinal Cancer, Genetic Testing For Cancer, Gynecologic Cancer, Head and Neck Cancer, Hematologic Malignancy, Lung Cancer, Melanoma, Molecular Oncology, Neurooncology, Palliative and Supportive Care, Pediatric Oncology, Surgical Oncology, Translational Oncology, and Urologic Oncology.