Dual PTCH2 mutation [Ser391*, Leu104Pro]: unveiling a potential new genetic susceptibility factor for glioma development.

IF 3 3区 医学 Q2 ONCOLOGY
Investigational New Drugs Pub Date : 2025-02-01 Epub Date: 2025-01-13 DOI:10.1007/s10637-024-01491-7
Xiang Li, Yingting Wu, Tiantian Han, Ran Ding, Rongrong Kong, Siqi Chen, Ningning Luo, Mingji Jin, Dongsheng Chen, Ping Zhang
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引用次数: 0

Abstract

Gliomas are a heterogeneous type of central nervous system tumor. The etiology of glioma formation remains elusive, with approximately 5% of gliomas being familial, underscoring the significance of understanding genetic susceptibility in glioma development. In this study, a dual germline PTCH2 mutation [Ser391*, Leu104Pro] was identified in a family with a history of glioma, and sequencing data from WES/SimcereDx Neuro-Onco 360 including 910 Chinese patients with glioma and 1666 patients with solid tumors were analyzed. A potential link between PTCH2 mutations and glioma development was observed in the Chinese population. Comprehensive analysis revealed that gliomas harboring dual PTCH2 mutations were segregated into two distinct clinical subtypes, indicating that the presence of PTCH2 is a novel genetic risk factor for glioma. These findings expand the genetic risk profile of glioma and offer promising avenues for the development of targeted diagnostic and therapeutic strategies. The results of this study emphasize the necessity for a comprehensive investigation into the genetic predisposition to gliomas, particularly in Asian populations, to achieve a better understanding of and management strategy for this complex disease.

PTCH2 双突变[Ser391*, Leu104Pro]:揭示胶质瘤发展的潜在新遗传易感因素。
胶质瘤是一种异质性中枢神经系统肿瘤。胶质瘤形成的病因仍然难以捉摸,大约5%的胶质瘤是家族性的,这强调了了解遗传易感性在胶质瘤发展中的重要性。本研究在一个有胶质瘤病史的家族中发现了一个双种系PTCH2突变[Ser391*, Leu104Pro],并分析了来自WES/SimcereDx neuroonco 360的测序数据,其中包括910例中国胶质瘤患者和1666例实体瘤患者。在中国人群中观察到PTCH2突变与胶质瘤发展之间的潜在联系。综合分析发现,携带PTCH2双突变的胶质瘤可分为两种不同的临床亚型,这表明PTCH2的存在是胶质瘤的一种新的遗传危险因素。这些发现扩大了神经胶质瘤的遗传风险概况,并为有针对性的诊断和治疗策略的发展提供了有希望的途径。本研究的结果强调有必要对神经胶质瘤的遗传易感性进行全面调查,特别是在亚洲人群中,以更好地了解这种复杂疾病并制定治疗策略。
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
CiteScore
7.60
自引率
0.00%
发文量
121
审稿时长
1 months
期刊介绍: The development of new anticancer agents is one of the most rapidly changing aspects of cancer research. Investigational New Drugs provides a forum for the rapid dissemination of information on new anticancer agents. The papers published are of interest to the medical chemist, toxicologist, pharmacist, pharmacologist, biostatistician and clinical oncologist. Investigational New Drugs provides the fastest possible publication of new discoveries and results for the whole community of scientists developing anticancer agents.
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