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小儿脑肿瘤分子诊断的最新进展

Recent Advancement of the Molecular Diagnosis in Pediatric Brain Tumor.

作者信息

Bae Jeong-Mo, Won Jae-Kyung, Park Sung-Hye

机构信息

Department of Pathology, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.

Department of Neuroscience Institute, Seoul National University College of Medicine, Seoul, Korea.

出版信息

J Korean Neurosurg Soc. 2018 May;61(3):376-385. doi: 10.3340/jkns.2018.0057. Epub 2018 May 1.

Abstract

Recent discoveries of brain tumor-related genes and fast advances in genomic testing technologies have led to the era of molecular diagnosis of brain tumor. Molecular profiling of brain tumor became the significant step in the diagnosis, the prediction of prognosis and the treatment of brain tumor. Because traditional molecular testing methods have limitations in time and cost for multiple gene tests, next-generation sequencing technologies are rapidly introduced into clinical practice. Targeted sequencing panels using these technologies have been developed for brain tumors. In this article, focused on pediatric brain tumor, key discoveries of brain tumor-related genes are reviewed and cancer panels used in the molecular profiling of brain tumor are discussed.

摘要

脑肿瘤相关基因的最新发现以及基因组检测技术的快速发展引领了脑肿瘤分子诊断时代。脑肿瘤的分子谱分析成为脑肿瘤诊断、预后预测及治疗的重要步骤。由于传统分子检测方法在进行多个基因检测时存在时间和成本方面的局限性,新一代测序技术迅速被引入临床实践。利用这些技术开发了针对脑肿瘤的靶向测序panel。本文聚焦于儿童脑肿瘤,回顾了脑肿瘤相关基因的关键发现,并讨论了用于脑肿瘤分子谱分析的癌症panel。

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