Konovalov N A, Asyutin D S, Shayhaev E G, Kaprovoy S V, Timonin S Yu
National Medical Research Center of Neurosurgery, Ministry of Health of the Russian Federation Acad. N.N. Burdenko, 4th Tverskaya-Yamskaya Str. 16, Moscow, 125047, Russia.
FGBU Russian Research Center for X-ray Radiology of the Ministry of Health of the Russian Federation Profsouznaya Str. 86, Moscow, 117485, Russia.
Acta Naturae. 2019 Apr-Jun;11(2):17-27. doi: 10.32607/20758251-2019-11-2-17-27.
Spinal cord astrocytomas are rare diseases of the central nervous system. The localization of these tumors and their infiltrative growth complicate their surgical resection, increase the risk of postoperative complications, and require more careful use of radio- and chemotherapy. The information on the genetic mutations associated with the onset and development of astrocytomas provides a more accurate neoplasm diagnosis and classification. In some cases, it also allows one to determine the optimal methods for treating the neoplasm, as well as to predict the treatment outcomes and the risks of relapse. To date, a number of molecular markers that are associated with brain astrocytomas and possess prognostic value have been identified and described. Due to the significantly lower incidence of spinal cord astrocytomas, the data on similar markers are much more sparse and are presented with a lesser degree of systematization. However, due to the retrospective studies of clinical material that have been actively conducted abroad in recent years, the formation of statistically significant genetic landscapes for various types of tumors, including intradural spinal cord tumors, has begun. In this regard, the purpose of this review is to analyze and systematize the information on the most significant genetic mutations associated with various types of astrocytomas, as well as discuss the prospects for using the corresponding molecular markers for diagnostic and prognostic purposes.
脊髓星形细胞瘤是中枢神经系统的罕见疾病。这些肿瘤的定位及其浸润性生长使其手术切除复杂化,增加了术后并发症的风险,并且需要更谨慎地使用放疗和化疗。与星形细胞瘤的发生和发展相关的基因突变信息有助于更准确地进行肿瘤诊断和分类。在某些情况下,它还能让人们确定治疗肿瘤的最佳方法,以及预测治疗结果和复发风险。迄今为止,已经鉴定并描述了一些与脑星形细胞瘤相关且具有预后价值的分子标志物。由于脊髓星形细胞瘤的发病率显著较低,关于类似标志物的数据要稀少得多,且系统化程度较低。然而,近年来国外积极开展的临床资料回顾性研究,已开始形成包括硬脊膜内脊髓肿瘤在内的各类肿瘤具有统计学意义的基因图谱。在这方面,本综述的目的是分析和系统化与各类星形细胞瘤相关的最重要基因突变信息,并讨论使用相应分子标志物进行诊断和预后评估的前景。