Phi Ji Hoon, Wang Kyu-Chang, Kim Seung-Ki
Division of Pediatric Neurosurgery, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea.
J Korean Neurosurg Soc. 2018 May;61(3):333-342. doi: 10.3340/jkns.2018.0056. Epub 2018 May 1.
Intracranial germ cell tumors (iGCTs) are a heterogeneous group of tumors with peculiar characteristics clearly distinguished from other brain tumors of neuroepithelial origin. Diverse histology, similarity to gonadal GCT, predilection to one sex, and geographic difference in incidence all present enigmas and fascinating challenges. The treatment of iGCT has advanced for germinoma to date; thus, clinical attention has shifted from survival to long-term quality of life. However, for non-germinomatous GCT, current protocols provide only modest improvement and more innovative therapies are needed. Recently, next-generation sequencing studies have revealed the genomic landscape of iGCT. Novel mutations in the KIT-RAS-MAPK and AKT-MTOR pathways were identified. More importantly, methylation profiling revealed a new method to assess the pathogenesis of iGCT. Molecular research will unleash new knowledge on the origin of iGCT and solve the many mysteries that have lingered on this peculiar neoplasm for a long time.
颅内生殖细胞肿瘤（iGCTs）是一组异质性肿瘤，具有独特的特征，与其他神经上皮起源的脑肿瘤明显不同。多样的组织学类型、与性腺生殖细胞肿瘤的相似性、对某一性别的偏好以及发病率的地理差异都带来了谜题和引人入胜的挑战。迄今为止，iGCT中生殖细胞瘤的治疗已经取得进展；因此，临床关注已从生存转移到长期生活质量。然而，对于非生殖细胞性生殖细胞肿瘤，目前的方案仅带来适度改善，还需要更具创新性的疗法。最近，新一代测序研究揭示了iGCT的基因组格局。在KIT-RAS-MAPK和AKT-MTOR通路中发现了新的突变。更重要的是，甲基化分析揭示了一种评估iGCT发病机制的新方法。分子研究将揭示关于iGCT起源的新知识，并解开长期以来围绕这种特殊肿瘤的诸多谜团。
