{"title":"Dual PTCH2 mutation [Ser391*, Leu104Pro]: unveiling a potential new genetic susceptibility factor for glioma development.","authors":"Xiang Li, Yingting Wu, Tiantian Han, Ran Ding, Rongrong Kong, Siqi Chen, Ningning Luo, Mingji Jin, Dongsheng Chen, Ping Zhang","doi":"10.1007/s10637-024-01491-7","DOIUrl":null,"url":null,"abstract":"<p><p>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.</p>","PeriodicalId":14513,"journal":{"name":"Investigational New Drugs","volume":" ","pages":""},"PeriodicalIF":3.0000,"publicationDate":"2025-01-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Investigational New Drugs","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1007/s10637-024-01491-7","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"ONCOLOGY","Score":null,"Total":0}
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.
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.