PDF(Pubmed)
Abstract：
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.
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.
摘要：
背景：颅内生殖细胞肿瘤（GCT）可发生颅外转移，但这是非常罕见的。非生殖细胞生殖细胞肿瘤（NGGCT）的复发或转移通常伴随着肿瘤标志物的升高。隐匿性颅外转移或阴性标志物复发通常很难及时发现。导致非常差的预后。
方法：一名12岁男孩因头晕入院，头痛,呕吐,和困倦。磁共振成像（MRI）显示松果体肿块，伴随着血清甲胎蛋白（AFP）的显着增加。患者随后经历了肿瘤的完全切除。病理显示肿瘤为混合型GCT,由成熟的畸胎瘤组成，生殖细胞瘤,和卵黄囊瘤.颅内GCT在强化辅助化疗和放疗后完全缓解。定期随访MRI显示颅内肿瘤无复发，持续监测肿瘤标志物未发现异常。八个月后,患者因进行性腹痛再次入院.影像学和体格检查显示腹部占据和颈部淋巴肿块。他接受了挽救性化疗,抗PD-1免疫疗法，姑息化疗，但由于肿瘤进展仍然发展为多器官功能障碍综合征（MODS），并最终在一个月后死亡。
结论：这个深刻的病例表明颅内NGGCT可能发展为隐匿性颅外恶性肿瘤，在临床症状出现时可能非常严重，预后极差。因此,除了肿瘤标志物监测，定期随访颅外成像可能是必要的，以尽早发现颅外肿瘤，尽管频率可能不如神经成像。
方法：一名12岁男孩因头晕入院，头痛,呕吐,和困倦。磁共振成像（MRI）显示松果体肿块，伴随着血清甲胎蛋白（AFP）的显着增加。患者随后经历了肿瘤的完全切除。病理显示肿瘤为混合型GCT,由成熟的畸胎瘤组成，生殖细胞瘤,和卵黄囊瘤.颅内GCT在强化辅助化疗和放疗后完全缓解。定期随访MRI显示颅内肿瘤无复发，持续监测肿瘤标志物未发现异常。八个月后,患者因进行性腹痛再次入院.影像学和体格检查显示腹部占据和颈部淋巴肿块。他接受了挽救性化疗,抗PD-1免疫疗法，姑息化疗，但由于肿瘤进展仍然发展为多器官功能障碍综合征（MODS），并最终在一个月后死亡。
结论：这个深刻的病例表明颅内NGGCT可能发展为隐匿性颅外恶性肿瘤，在临床症状出现时可能非常严重，预后极差。因此,除了肿瘤标志物监测，定期随访颅外成像可能是必要的，以尽早发现颅外肿瘤，尽管频率可能不如神经成像。
