Iman Dandapath, Saumya Sahu, Supriya Bhardwaj, T. Mohan, Rituparna Chakraborty, Jyotsna Singh, Swati Singh, Ajay Garg, Deepak Gupta, M. Sharma, V. Suri
{"title":"Novel EGFR Mutations in Diffuse Midline Gliomas Using Cost-Effective Strategies: A Report of Two Cases","authors":"Iman Dandapath, Saumya Sahu, Supriya Bhardwaj, T. Mohan, Rituparna Chakraborty, Jyotsna Singh, Swati Singh, Ajay Garg, Deepak Gupta, M. Sharma, V. Suri","doi":"10.1093/nop/npae008","DOIUrl":null,"url":null,"abstract":"\n Diffuse midline gliomas are malignant tumors primarily affecting children and are associated with poor outcomes. The 2021 WHO classification introduces three subtypes that all exhibit the universal phenomenon of H3K27 trimethylation loss. In this report, we present two cases of DMG, EGFR mutant, each featuring novel EGFR mutations within exon 20. These findings contribute to a deeper understanding of the molecular characteristics of these complex pediatric brain tumors. Notably, both cases were detected using cost-effective diagnostic approaches.","PeriodicalId":19234,"journal":{"name":"Neuro-oncology practice","volume":null,"pages":null},"PeriodicalIF":2.4000,"publicationDate":"2024-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Neuro-oncology practice","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1093/nop/npae008","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
Diffuse midline gliomas are malignant tumors primarily affecting children and are associated with poor outcomes. The 2021 WHO classification introduces three subtypes that all exhibit the universal phenomenon of H3K27 trimethylation loss. In this report, we present two cases of DMG, EGFR mutant, each featuring novel EGFR mutations within exon 20. These findings contribute to a deeper understanding of the molecular characteristics of these complex pediatric brain tumors. Notably, both cases were detected using cost-effective diagnostic approaches.
期刊介绍：
Neuro-Oncology Practice focuses on the clinical aspects of the subspecialty for practicing clinicians and healthcare specialists from a variety of disciplines including physicians, nurses, physical/occupational therapists, neuropsychologists, and palliative care specialists, who have focused their careers on clinical patient care and who want to apply the latest treatment advances to their practice. These include: Applying new trial results to improve standards of patient care Translating scientific advances such as tumor molecular profiling and advanced imaging into clinical treatment decision making and personalized brain tumor therapies Raising awareness of basic, translational and clinical research in areas of symptom management, survivorship, neurocognitive function, end of life issues and caregiving
京公网安备 11010802042870号
京ICP备2023020795号-1
分享
求助内容：
应助结果提醒方式：
扫码关注我们
