Research progress on low-grade developmental and epilepsy-associated brain tumors
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癫痫相关低级别发育性脑肿瘤(LEAT)是青少年局灶性癫痫的第二常见病因,这类肿瘤以 癫痫发作为主要症状,预后较好,常见类型包括节细胞胶质瘤(GG)、胚胎发育不良神经上皮肿瘤(DNT) 等。2021 年的《WHO 中枢神经系统肿瘤分类》第五版(CNS WHO 5th)引入了分子学分型,这有助于 LEAT的诊断和分类。LEAT的分子分型包括BRAF V600E突变为主、成纤维细胞生长因子受体1(FGFR1) 突变为主和MYB改变为主的肿瘤。手术治疗是本病的主要治疗方式,多数患者术后癫痫症状缓解,但 对于持续癫痫发作的患者,建议长期使用抗癫痫药物。目前,关于LEAT的分子分型对治疗和预后的影 响尚需进一步研究。本文基于CNS WHO 5th 对LEAT进行综述,以期为LEAT的诊疗提供参考。
Abstract:
low-grade developmental and epilepsy-associated brain tumors( LEAT) are the second most common cause of focal epilepsy in adolescents. These tumors present primarily with epileptic seizures and carry a favorable prognosis. Common types include ganglioglioma( GG) and dysembryoplastic neuroepithelial tumor (DNT). The 2021 fifth edition of the WHO Classification of Tumors of the Central Nervous System( CNS WHO 5th) has introduced molecular typing, which aids in the diagnosis and classification of LEAT. LEAT molecular types include tumors predominantly driven by BRAF V600E mutation, fibroblast growth factor receptor 1( FGFR1) mutation, and MYB alterations. Surgical treatment is the primary method for this condition. Most patients experience relief from epileptic symptoms after surgery. However, for patients with persistent seizures, longterm use of antiepileptic drugs is recommended. At present, the impact of LEAT molecular typing on treatment and prognosis requires further investigation. This paper provides a review of LEAT based on CNS WHO 5th, aiming to provide reference for the diagnosis and treatment of LEAT
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李卓,王军梅.癫痫相关低级别发育性脑肿瘤研究进展[J].神经疾病与精神卫生,2025,25(12):872-877 DOI :10.3969/j. issn.1009-6574.2025.12.005.