Department of Neurosurgery, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Japan.
Department of Surgical Pathology, Hokkaido University Hospital, Sapporo, Japan.
Neuropathology. 2020 Jun;40(3):275-279. doi: 10.1111/neup.12636. Epub 2020 Jan 27.
A 17-year-old female complained of lower extremity pain that progressed to low back pain accompanied by paraparesis. Magnetic resonance imaging revealed a mass in the conus medullaris of the spinal cord at the thoracic spine 11-12 level. The patient underwent resection of the mass. The pathological diagnosis was anaplastic astrocytoma based on the densely proliferating astrocytic tumor cells without necrosis or microvascular proliferation. The patient received chemoradiotherapy with oral temozolomide and a total of 54 Gy of local irradiation, followed by 24 courses of temozolomide as maintenance chemotherapy. The patient survived for 8 years without tumor recurrence following the initial treatment. Genetic analysis of the tumor revealed a BRAF V600E mutation that has not yet been reported in spinal cord high-grade gliomas (HGGs). In recent years, the molecular therapy targeting the BRAF V600E mutation has been applied in clinical practice for several cancer types. Although the frequency in spinal cord HGGs is uncertain, it is necessary to investigate BRAF V600E mutation as a potential therapeutic target in the future.
一名 17 岁女性因下肢疼痛进展为腰痛，伴有截瘫而就诊。磁共振成像显示胸 11-12 水平脊髓圆锥内有一肿块。患者接受了肿块切除术。病理诊断为弥漫性增生的星形细胞瘤，无坏死或微血管增生。患者接受了替莫唑胺化疗和局部照射 54 Gy 的放射治疗，随后进行了 24 个疗程的替莫唑胺维持化疗。患者在初始治疗后 8 年无肿瘤复发，存活至今。肿瘤的基因分析显示 BRAF V600E 突变，这在脊髓高级别神经胶质瘤（HGGs）中尚未有报道。近年来，针对 BRAF V600E 突变的分子治疗已在几种癌症类型的临床实践中得到应用。尽管脊髓 HGGs 中的频率尚不确定，但有必要在未来将 BRAF V600E 突变作为潜在的治疗靶点进行研究。
