小儿神经肿瘤学创新技术

G. Novichkova, L. Papusha, A. Druy
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引用次数: 0

摘要

目前,小儿神经肿瘤学发展迅速,这主要得益于对儿童脑肿瘤病因和发病机制的深入了解、分子基因技术被广泛引入诊断工作流程以及针对肿瘤细胞的靶向治疗药物的出现。许多在组织病理学层面无法区分的肿瘤实体被分子技术归类,现在成为独特的疾病。分子分类所揭示的临床异质性是现代风险分层方法的基础。由于采用了先进的分子诊断技术,才发现了各种新的肿瘤实体,从而确定了神经上皮性肿瘤的 BCOR 和 PATZ1 基因改变、颅内间质肿瘤的 FET-CREB 基因重排等反复出现的基因畸变。胶质瘤中可靶向的分子驱动因素的发现,使得靶向疗法被引入儿科神经肿瘤学,并取得了其他方法无法达到的高疗效。本文介绍了罗加乔夫国家医学研究中心(D. Rogachev National Medical Research Center)在小儿脑肿瘤分子诊断和不同类型胶质瘤患者靶向治疗方面的经验。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Innovative Technologies in Pediatric Neuro-Oncology
At the present time pediatric neuro-oncology develops rapidly mostly due to the deep understanding of etiology and pathogenesis of the brain tumors in children, widespread introduction of molecular genetic technologies into diagnostic workflow and emergence of targeted therapeutic agents directing to the neoplastic cells. Many tumor entities undistinguishable at the level of histopathology were classified by the molecular techniques and now present as unique disorders. Clinical heterogeneity unraveled by molecular classification is a basis for modern risk stratification approaches. Variety of new tumor entities were discovered only because of implementation of advanced molecular diagnostics, which led to identification of the recurrent genetic aberration in neuroepithelial tumors with BCOR and PATZ1 genes alteration, intracranial mesenchymal tumors with FET-CREB rearrangements. The discovery of the targetable molecular drivers in gliomas allows the introduction of targeted therapies to the pediatric neuro-oncology with high results unreachable by other methods. In the current article we describe the experience of D. Rogachev National Medical Research Center in molecular diagnostics of pediatric brain tumors and targeted therapy in patients with different types of gliomas.
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