颅内生殖细胞肿瘤（GCT）可以发生颅外转移，但这种情况非常罕见。非生殖细胞瘤性生殖细胞肿瘤（NGGCT）的复发或转移通常伴有肿瘤标志物升高。隐匿性颅外转移或指标阴性的复发常常很难及时检测到，导致预后非常不良。一个12岁男孩因头晕、头痛、呕吐和嗜睡被送至我们的医院。磁共振成像（MRI）显示有松果体肿块，同时血清甲胎蛋白（AFP）显著增高。患者随后接受了肿瘤的完全切除手术。病理学显示该肿瘤为混合GCT，包括成熟畸胎瘤、生发瘤和卵黄囊肿瘤。经过强化辅助化疗和放疗后，颅内GCT完全缓解。定期随访MRI未显示颅内肿瘤复发，并且继续观察肿瘤标志物未发现异常。八个月后，患者因腹痛加重被再次收治。影像学和体检显示腹部占位和颈部淋巴肿块。他接受了挽救化疗、抗PD-1免疫治疗和姑息化疗，但仍因肿瘤进展而出现多器官功能障碍综合征（MODS），最终在一个月后去世。这个深刻的案例表明，颅内NGGCT可能会发展出隐匿性颅外恶性肿瘤，该恶性肿瘤可能在临床症状出现时非常严重，并具有极差的预后。因此，除了监测肿瘤标志物，定期进行颅外影像检查可能是必要的，尽管可能没有神经影像频繁。© 2023. BioMed Central Ltd., part of Springer Nature.

​Extracranial metastasis can occur in intracranial germ cell tumors (GCTs), but it is very rare. Recurrence or metastasis of non-germinomatous germ cell tumors (NGGCTs) is often accompanied by elevated tumor markers. ​Occult extracranial metastases or recurrences with negative markers are often difficult to detect in time, resulting in a very poor prognosis.A 12-year-old boy was admitted to our institution with dizziness, headache, vomiting, and sleepiness. Magnetic resonance imaging (MRI) showed a pineal mass, accompanied by a significant increase in serum alpha-fetoprotein (AFP). The patient subsequently underwent total removal of the tumor. Pathology revealed that the tumor was a mixed GCT, consisting of mature teratoma, germinoma, and yolk sac tumor. Intracranial GCT achieved complete remission after intensive adjuvant chemotherapy and radiotherapy. Regular follow-up MRI revealed no recurrence of the intracranial tumor and continued monitoring of tumor markers revealed no abnormalities. ​Eight months later, the patient was readmitted due to progressive abdominal pain. Imaging and physical examination revealed abdominal occupation and lymphatic mass in the neck. He received salvage chemotherapy, anti-PD-1 immunotherapy, and palliative chemotherapy, but still developed multiple organ dysfunction syndromes (MODS) due to tumor progression and eventually died after one month.​This profound case suggests that intracranial NGGCTs may develop occult extracranial malignancy, which can be very severe at the time of clinical symptoms and has an extremely poor prognosis. Therefore, in addition to tumor marker monitoring, regular follow-up with extracranial imaging may be warranted to detect extracranial tumors as early as possible, although perhaps not as frequently as with neuroimaging.© 2023. BioMed Central Ltd., part of Springer Nature.