中枢神经系统生殖细胞肿瘤（GCT）的肿瘤标记物包括人绒毛膜促性腺激素（HCG）和α-胎球蛋白（AFP），这些标记物有重要的诊断意义，因为其中任一个升高都会导致非生殖细胞性GCT的临床诊断而无需组织病理学证实，进而证明需要强化化疗和放射治疗。本研究基于一个经过组织病理学验证的国际GCT组织样本队列（n = 85），通过活检（n = 85）或切除（n = 76），旨在更好地定义血清和脑脊液中肿瘤标记物在这个具有挑战性的患者群体中的临床作用和预后意义。我们发现，HCG只在卵黄瘤或绒毛膜癌成分存在的情况下升高，并且两者之间存在明显的HCG值的分界线。AFP在没有卵黄囊瘤成分的GCT中常常升高，特别是不成熟畸胎瘤。 HCG仅在52例中的3例中升高于CSF中，AFP仅在49例中的7例中升高于血清中，强调了血清和脑脊液研究的潜在应用价值。 不成熟畸胎瘤无论肿瘤标记物的状态如何，其预后都不良，5年总生存率为56％；然而，同时存在绒毛膜瘤成分预示着更有利的预后。总之，本研究的发现强调了在中枢神经系统GCT中评估肿瘤标记物的重要性和谨慎解读。 © 2023作者及作者联合出版方。

Tumor markers in CNS germ cell tumors (GCTs) include human chorionic gonadotropin (HCG) and alpha fetoprotein (AFP), which have significant diagnostic implications, as elevation of either one leads to clinical diagnosis of non-germinomatous GCTs without histopathological confirmation, justifying intensified chemotherapy and irradiation. The current study, based on an international cohort of histopathologically verified GCTs that underwent biopsy (n = 85) or resection (n = 76), sought to better define the clinical role and prognostic significance of tumor markers from serum and CSF in this challenging patient population. We found that HCG was elevated only in cases with a germinoma or choriocarcinoma component, and there existed a clear cut-off HCG value between the two. AFP was often elevated in GCTs without a yolk sac tumor component, especially immature teratoma. HCG was elevated only in CSF in 3-of-52 cases, and AFP was elevated only in serum in 7-of-49 cases, emphasizing the potential utilization of both serum and CSF studies. Immature teratoma demonstrated unfavorable prognosis independent of tumor marker status, with 56% 5-year overall survival; however, co-existent germinoma components indicated a more favorable prognosis. Taken together, the study findings emphasize the importance for routine assessment and guarded interpretation of tumor markers in CNS GCTs.© 2023. The Author(s).