Arthur and Sonia Labatt Brain Tumour Research Centre, The Hospital for Sick Children, 555 University Avenue, Toronto, ON, M5G 1X8, Canada.
Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada.
Acta Neuropathol Commun. 2020 Mar 12;8(1):30. doi: 10.1186/s40478-020-00902-z.
Low grade gliomas are the most frequent brain tumors in children and encompass a spectrum of histologic entities which are currently assigned World Health Organisation grades I and II. They differ substantially from their adult counterparts in both their underlying genetic alterations and in the infrequency with which they transform to higher grade tumors. Nonetheless, children with low grade glioma are a therapeutic challenge due to the heterogeneity in their clinical behavior - in particular, those with incomplete surgical resection often suffer repeat progressions with resultant morbidity and, in some cases, mortality. The identification of up-regulation of the RAS-mitogen-activated protein kinase (RAS/MAPK) pathway as a near universal feature of these tumors has led to the development of targeted therapeutics aimed at improving responses while mitigating patient morbidity. Here, we review how molecular information can help to further define the entities which fall under the umbrella of pediatric-type low-grade glioma. In doing so we discuss the specific molecular drivers of pediatric low grade glioma and how to effectively test for them, review the newest therapeutic agents and their utility in treating this disease, and propose a risk-based stratification system that considers both clinical and molecular parameters to aid clinicians in making treatment decisions.
低级别胶质瘤是儿童中最常见的脑肿瘤,包括一系列目前被世界卫生组织分为 I 级和 II 级的组织学实体。它们在潜在的遗传改变以及向高级别肿瘤转化的罕见程度上与成人肿瘤有很大的不同。尽管如此,由于儿童低级别胶质瘤的临床行为存在异质性,治疗仍然是一个挑战 - 特别是那些不完全手术切除的患者,往往会多次复发,导致发病率增加,在某些情况下甚至导致死亡。RAS-丝裂原活化蛋白激酶(RAS/MAPK)通路的上调被确定为这些肿瘤的一个近乎普遍的特征,这导致了靶向治疗的发展,旨在提高反应率的同时减轻患者的发病率。在这里,我们回顾了分子信息如何帮助进一步定义属于儿童型低级别胶质瘤范畴的实体。在这样做的过程中,我们讨论了儿童低级别胶质瘤的特定分子驱动因素以及如何有效地检测它们,回顾了最新的治疗药物及其在治疗这种疾病中的应用,并提出了一种基于风险的分层系统,该系统考虑了临床和分子参数,以帮助临床医生做出治疗决策。