Department of Radiation Oncology, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.
Cancer and Blood Diseases Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
Cancer Rep (Hoboken). 2022 Aug;5(8):e1586. doi: 10.1002/cnr2.1586. Epub 2021 Nov 18.
Intracranial germ cell tumors (GCTs) comprise 3%-5% of pediatric primary central nervous system (CNS) tumors in Western countries. Though they are related in embryonic origin to gonadal GCTs, which are considered highly treatable with cisplatin-based chemotherapy regimens, intracranial GCTs vary in malignant potential and sensitivity to radiation and chemotherapy, generally carrying a worse prognosis. Metastases of intracranial GCTs outside of the CNS are rare, indicate a poor prognosis, and their salvage treatment is not well established.
A 15-year-old boy presented with bifocal (suprasellar and pineal) intracranial nongerminomatous germ cell tumors of mixed origin. The tumors were treated to full response with a multimodal approach of neoadjuvant chemotherapy, surgical resection, and adjuvant craniospinal proton radiation. Nine months following treatment completion, the patient presented with an enlarged cervical lymph node determined on excisional biopsy to be a recurrence of pure germinoma from the primary tumors. Salvage treatment involved high-dose chemotherapy and autologous stem cell transplantation; however, the patient denied further treatment prior to planned focal radiotherapy. Thirty months post-treatment, the patient is well with no evidence of recurrence.
This case demonstrated the successful salvage treatment of an extraneural recurrence of an intracranial GCT using surgical resection and a high-dose chemotherapy and autologous stem-cell transplantation regimen, highlighting the unique factors which led to the selection of this regimen.
颅内生殖细胞瘤（GCT）占西方国家儿童原发性中枢神经系统（CNS）肿瘤的 3%-5%。虽然它们在胚胎起源上与性腺生殖细胞瘤有关，后者被认为可以通过顺铂为基础的化疗方案高度治疗，但颅内 GCT 在恶性潜能和对放疗和化疗的敏感性方面存在差异，通常预后较差。颅内 GCT 向 CNS 以外部位转移的情况较为罕见，预示着预后不良，其挽救性治疗尚不确定。
一名 15 岁男孩表现为双灶（鞍上和松果体）颅内非生殖细胞瘤混合来源生殖细胞肿瘤。通过新辅助化疗、手术切除和辅助颅脊髓质子放疗的多模态方法，肿瘤完全缓解。治疗完成 9 个月后，患者出现颈淋巴结肿大，经切除活检确定为原发性肿瘤的纯生殖细胞瘤复发。挽救性治疗包括大剂量化疗和自体干细胞移植；然而，在计划进行局部放疗之前，患者拒绝进一步治疗。治疗后 30 个月，患者情况良好，无复发迹象。
本病例成功地使用手术切除和大剂量化疗加自体干细胞移植方案治疗了颅内 GCT 的神经外复发，突出了选择该方案的独特因素。
