Vida Livia, Kereskai László, Kovács Kitti Laura, Kajtár Béla
Klinikai Központ, Pécsi Tudományegyetem, Patológiai Intézet, Pécs, Hungary.
Magy Onkol. 2024 Dec 10;68(4):299. Epub 2024 Oct 17.
This study aims to evaluate the diagnostic challenges and molecular aspects of pediatric gliomas, among the most common brain tumors in children, focusing on improving early detection and personalized treatment strategies.
We conducted a comprehensive review of recent literature, examining current diagnostic techniques, including imaging and histopathological analysis, alongside molecular profiling methods such as next-generation sequencing (NGS) and methylation profiling.
The findings highlight significant diagnostic challenges due to the heterogeneity of pediatric gliomas. Molecular profiling has proven essential in identifying key genetic alterations, such as those in the H3F3A and MAPK pathway genes, offering insights into tumor behavior and therapeutic targets.
Early and accurate diagnosis of pediatric gliomas is hampered by their molecular diversity. Integrating molecular diagnostics with traditional methods is crucial for enhancing diagnostic accuracy and guiding personalized treatment approaches.
本研究旨在评估儿童胶质瘤（儿童最常见的脑肿瘤之一）的诊断挑战和分子特征，重点是改善早期检测和个性化治疗策略。
我们对近期文献进行了全面综述，研究了当前的诊断技术，包括影像学和组织病理学分析，以及诸如二代测序（NGS）和甲基化分析等分子谱分析方法。
研究结果凸显了由于儿童胶质瘤的异质性而带来的重大诊断挑战。分子谱分析已被证明在识别关键基因改变（如H3F3A和MAPK通路基因中的改变）方面至关重要，这为了解肿瘤行为和治疗靶点提供了线索。
儿童胶质瘤的分子多样性阻碍了其早期和准确诊断。将分子诊断与传统方法相结合对于提高诊断准确性和指导个性化治疗方法至关重要。
