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儿童低级别神经胶质瘤和神经胶质神经元肿瘤的分子靶向治疗。

Molecular-targeted therapy for childhood low-grade glial and glioneuronal tumors.

机构信息

Brain Tumor Institute, Children's National Hospital, 111 Michigan Ave NW, Washington, DC, 20010, USA.

Gilbert Family Neurofibromatosis Institute, Children's National Hospital, Washington, DC, USA.

出版信息

Childs Nerv Syst. 2024 Oct;40(10):3251-3262. doi: 10.1007/s00381-024-06486-6. Epub 2024 Jun 15.

DOI:10.1007/s00381-024-06486-6
PMID:38877124
Abstract

Since the discovery of the association between BRAF mutations and fusions in the development of childhood low-grade gliomas and the subsequent recognition that most childhood low-grade glial and glioneuronal tumors have aberrant signaling through the RAS/RAF/MAP kinase pathway, there has been a dramatic change in how these tumors are conceptualized. Many of the fusions and mutations present in these tumors are associated with molecular targets, which have agents in development or already in clinical use. Various agents, including MEK inhibitors, BRAF inhibitors, MTOR inhibitors and, in small subsets of patients NTRK inhibitors, have been used successfully to treat children with recurrent disease, after failure of conventional approaches such as surgery or chemotherapy. The relative benefits of chemotherapy as compared to molecular-targeted therapy for children with newly diagnosed gliomas and neuroglial tumors are under study. Already the combination of an MEK inhibitor and a BRAF inhibitor has been shown superior to conventional chemotherapy (carboplatin and vincristine) in newly diagnosed children with BRAF-V600E mutated low-grade gliomas and neuroglial tumors. However, the long-term effects of such molecular-targeted treatment are unknown. The potential use of molecular-targeted therapy in early treatment has made it mandatory that the molecular make-up of the majority of low-grade glial and glioneuronal tumors is known before initiation of therapy. The primary exception to this rule is in children with neurofibromatosis type 1 who, by definition, have NF1 loss; however, even in this population, gliomas arising in late childhood and adolescence or those not responding to conventional treatment may be candidates for biopsy, especially before entry on molecular-targeted therapy trials.

摘要

自发现 BRAF 突变和融合与儿童低级别胶质瘤的发生有关,以及随后认识到大多数儿童低级别神经胶质瘤和神经胶质神经元肿瘤的 RAS/RAF/MAP 激酶通路存在异常信号传导以来,这些肿瘤的概念发生了巨大变化。这些肿瘤中存在的许多融合和突变与分子靶标相关,这些靶标已经有药物在开发中或已经在临床应用。各种药物,包括 MEK 抑制剂、BRAF 抑制剂、MTOR 抑制剂,以及在小部分患者中使用 NTRK 抑制剂,已成功用于治疗常规方法(如手术或化疗)失败后的复发性疾病。在新诊断的胶质瘤和神经胶质肿瘤患儿中,化疗与分子靶向治疗的相对益处正在研究中。已经证明,MEK 抑制剂和 BRAF 抑制剂的联合治疗优于新诊断的 BRAF-V600E 突变型低级别胶质瘤和神经胶质肿瘤患儿的常规化疗(卡铂和长春新碱)。然而,这种分子靶向治疗的长期效果尚不清楚。分子靶向治疗在早期治疗中的潜在应用使得在开始治疗之前必须了解大多数低级别神经胶质瘤和神经胶质神经元肿瘤的分子构成成为必要。这条规则的主要例外是在患有神经纤维瘤病 1 型的儿童中,根据定义,他们存在 NF1 缺失;然而,即使在这一人群中,在儿童晚期和青春期发生的或对常规治疗无反应的胶质瘤也可能是活检的候选者,特别是在进入分子靶向治疗试验之前。

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本文引用的文献

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LOGGIC/FIREFLY-2: a phase 3, randomized trial of tovorafenib vs. chemotherapy in pediatric and young adult patients with newly diagnosed low-grade glioma harboring an activating RAF alteration.LOGGIC/FIREFLY-2:一项托沃拉芬尼对比化疗治疗携带 RAF 激活性改变的新诊断为低级别胶质瘤的儿科和青年患者的 3 期随机临床试验。
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Dabrafenib plus Trametinib in Pediatric Glioma with V600 Mutations.达拉非尼联合曲美替尼治疗携带 V600 突变的小儿脑胶质瘤。
N Engl J Med. 2023 Sep 21;389(12):1108-1120. doi: 10.1056/NEJMoa2303815.
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Visual outcomes after bevacizumab-based therapy for optic pathway glioma.基于贝伐单抗治疗视路胶质瘤后的视觉预后。
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Diffuse Leptomeningeal Glioneuronal Tumor with FGFR1 Mutation in a 29-Year-Old Male.一名29岁男性患有伴有FGFR1突变的弥漫性软脑膜神经胶质神经元肿瘤。
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