Novel EGFR Mutations in Diffuse Midline Gliomas Using Cost-Effective Strategies: A Report of Two Cases

IF 2.4 Q2 CLINICAL NEUROLOGY

Neuro-oncology practice Pub Date : 2024-01-31 DOI:10.1093/nop/npae008

Iman Dandapath, Saumya Sahu, Supriya Bhardwaj, T. Mohan, Rituparna Chakraborty, Jyotsna Singh, Swati Singh, Ajay Garg, Deepak Gupta, M. Sharma, V. Suri

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.

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使用经济有效的策略治疗弥漫中线胶质瘤中的新型表皮生长因子受体突变：两个病例的报告

弥漫性中线胶质瘤是一种主要影响儿童的恶性肿瘤，其预后较差。2021 年世界卫生组织的分类引入了三种亚型，它们都表现出 H3K27 三甲基化缺失的普遍现象。在本报告中，我们介绍了两例表皮生长因子受体（EGFR）突变的DMG病例，这两例病例均在第20外显子内发生了新的EGFR突变。这些发现有助于深入了解这些复杂的小儿脑肿瘤的分子特征。值得注意的是，这两个病例都是通过经济有效的诊断方法发现的。

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

Neuro-oncology practice CLINICAL NEUROLOGY-

CiteScore

5.30

自引率

11.10%

发文量

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