Department of Biological Chemistry, Medical School, National and Kapodistrian University of Athens, 75 M. Asias Street - Bldg 16, 11527, Athens, Greece.
Neuromolecular Med. 2017 Sep;19(2-3):256-270. doi: 10.1007/s12017-017-8455-9. Epub 2017 Jul 26.
Brain tumors emerge as the second commonest type of pediatric solid tumors following hematologic malignancies. Genomic profiling of low- and high-grade gliomas, ependymomas and medulloblastomas has revealed chromosomal abnormalities and specific gene mutations which have been associated with aberrant activation of crucial signal transduction pathways, including mitogen-activated protein kinase, mammalian target of rapamycin and retinoblastoma tumor suppressor signaling. Furthermore, pediatric high-grade gliomas are associated with chromatin remodeling defects and somatic histone gene mutations that affect prognosis. This review provides an update of the molecular and genetic alterations that characterize pediatric brain tumors, and discusses novel therapeutic approaches targeting these abnormalities.
脑肿瘤是继血液恶性肿瘤之后儿童实体肿瘤的第二大常见类型。对低级别和高级别胶质瘤、室管膜瘤和髓母细胞瘤的基因组分析揭示了染色体异常和特定基因突变，这些异常与关键信号转导途径的异常激活有关，包括丝裂原活化蛋白激酶、雷帕霉素哺乳动物靶蛋白和视网膜母细胞瘤肿瘤抑制信号。此外，儿童高级别脑胶质瘤与影响预后的染色质重塑缺陷和体干细胞组蛋白基因突变有关。本文综述了儿童脑肿瘤的分子和遗传改变，并讨论了针对这些异常的新的治疗方法。
