Supplementary Material for: Intramedullary Glioblastoma as one of multiple radiation-induced neoplasms: Case Report

Background
Intramedullary glioblastoma is a rare entity comprising 1,4-9% of spinal gliomas. Spinal cord radiation-induced gliomas are unique, with only thirteen cases reported to date.
Case presentation
A 53-year-old female with a history of mediastinal Hodgkin lymphoma treated with chemotherapy and radiotherapy who subsequently developed thyroid cancer and breast cancer throughout her life, was admitted due to slowly progressing spastic tetraparesis. Cervical MRI revealed an intramedullary lesion at the C4-T1 level, enlarging the spinal cord, with a heterogenous contrast enhancement and a lesion within T1 vertebral body showing contrast enhancement. Whole body 18F-FDG-PET/CT revealed increased radionuclide uptake within the cervical spinal cord at the C2-C7 level and a focus of increased metabolic activity within the T1 vertebral body. The patient underwent a C4-T2 laminectomy with tumor debulking, and a biopsy of the T1 vertebral body was taken. Closure was performed with thecal sac expansion using a fascia lata graft, and laminoplasty was performed using the open-door technique. Postoperatively, the patient experienced progression of lower extremities and left arm paresis. The histomolecular results confirmed the diagnosis of Glioblastoma, IDH-wildtype (CNS WHO G4) in the cervical spinal cord lesion and breast cancer metastasis in the T1 vertebral body. No adjuvant therapy was administered due to neurological deficit progression. The patient died 6 months after surgery.
Conclusion
We report a case of an intramedullary glioblastoma in a patient with a history of radiation and multiple neoplasms located at the irradiation field borders. The full molecular analysis allowed for classification of the tumor as Glioblastoma, IDH-wildtype (CNS WHO G4) and screening for germinal mutations potentially predisposing to spontaneous neoplasm development.

背景
髓内胶质母细胞瘤（intramedullary glioblastoma）是一类罕见病变，约占脊髓胶质瘤（spinal gliomas）的1.4%~9%。脊髓放射性诱发胶质母细胞瘤（spinal cord radiation-induced gliomas）具有独特性，截至目前全球仅报道13例。

病例报告
患者为53岁女性，有纵隔霍奇金淋巴瘤（mediastinal Hodgkin lymphoma）病史，曾接受化疗与放疗，后续先后罹患甲状腺癌与乳腺癌，因缓慢进展的痉挛性四肢瘫（spastic tetraparesis）入院。颈椎磁共振成像（Magnetic Resonance Imaging, MRI）显示C4-T1节段存在髓内病变，导致脊髓膨大，呈不均匀强化；同时T1椎体可见强化病灶。全身18F-脱氧葡萄糖正电子发射断层显像/计算机断层扫描（18F-FDG-PET/CT）显示C2-C7节段颈髓内放射性核素摄取增高，且T1椎体存在代谢活性增高灶。患者接受C4-T2椎板切除术以行肿瘤减瘤，并对T1椎体病灶取材活检。术中以阔筋膜移植物（fascia lata graft）扩张硬脊膜囊（thecal sac）后完成切口闭合，并采用开门技术实施椎板成形术（laminoplasty）。术后患者下肢及左上肢轻瘫（paresis）症状进一步进展。组织分子学检测结果证实，颈髓病变为IDH野生型胶质母细胞瘤（Glioblastoma, IDH-wildtype，中枢神经系统WHO分级G4级），T1椎体病灶为乳腺癌转移瘤。鉴于患者神经功能缺损持续进展，未给予辅助治疗（adjuvant therapy）。患者于术后6个月死亡。

结论
本文报告1例有放疗史且合并多原发肿瘤的髓内胶质母细胞瘤病例，病灶位于放疗野边缘。通过全面的分子分析，明确该肿瘤为IDH野生型胶质母细胞瘤（CNS WHO G4级），并筛查出可能诱发自发性肿瘤发生的生殖系突变（germinal mutation）。