Vincenzo Di Nunno, Marta Aprile, Lidia Gatto, Alicia Tosoni, Lucia Ranieri, Stefania Bartolini, Enrico Franceschi
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引用次数: 0
摘要
目的:神经胶质细胞瘤和神经元肿瘤是罕见的原发性中枢神经系统恶性肿瘤,具有不同的特征。由于这些恶性肿瘤的罕见性,其诊断和治疗仍是一项临床挑战。方法:在此,我们进行了一项叙述性综述,旨在研究有关神经胶质细胞瘤的诊断、病理和临床治疗的主要问题。结果由于组织学和分子生物学层面的特征得到了更好的描述,诊断标准最近已被推翻。对这些肿瘤内发生的基因组改变的研究使我们能够确定潜在的治疗靶点,包括BRAF、FGFR和PDGFRA。结论对疾病进行分子测序 DNA 甲基化评估的技术是必不可少的诊断工具。在局部区域治疗失败后,应将靶向药物纳入治疗范围。
Novel insights toward diagnosis and treatment of glioneuronal and neuronal tumors in young adults.
Aim: Glioneuronal and neuronal tumors are rare primary central nervous system malignancies with heterogeneous features. Due to the rarity of these malignancies diagnosis and treatment remains a clinical challenge. Methods: Here we performed a narrative review aimed to investigate the principal issues concerning the diagnosis, pathology, and clinical management of glioneuronal tumors. Results: Diagnostic criteria have been recently overturned thanks to a better characterization on a histological and molecular biology level. The study of genomic alterations occurring within these tumors has allowed us to identify potential therapeutic targets including BRAF, FGFR, and PDGFRA. Conclusion: Techniques allowing molecular sequencing DNA methylation assessment of the disease are essential diagnostic tools. Targeting agents should be included in the therapeutic armamentarium after loco-regional treatment failure.