Tsukamoto Yoshihiro, Natsumeda Manabu, Shimizu Hiroshi, Takahashi Haruhiko, Shibuma Satoshi, Ueno Asuka, Takahashi Akihiro, Shida Kazuki, Saito Taiki, Fujiwara Hidemoto, Nakayama Yoko, Takahashi Yuki, Kondo Rie, Saito Rie, Eda Takeyoshi, Okada Masayasu, Okamoto Kouichirou, Kikuchi Toshiaki, Kakita Akiyoshi, Oishi Makoto
Department of Neurosurgery, Brain Research Institute, Niigata University, 1-757 Asahimachi-Dori, Chu-ou-ku, Niigata, 951-8585, Japan.
Advanced Treatment of Neurological Diseases Branch, Brain Research Institute, Niigata University, Niigata, Japan.
Brain Tumor Pathol. 2025 May 20. doi: 10.1007/s10014-025-00503-5.
We report a rare case of extracranial metastases of a glioblastoma, IDH-wildtype, in a 77-year-old man who initially presented with a right frontal tumor, and gross total resection and adjuvant chemoradiotherapy were performed. The tumor was histologically comprised of two cellular components: astrocytic and poorly differentiated astrocytic tumor cells, with each strongly and infrequently positive for glial markers. Importantly, both components were positive for Nestin and CD44, indicating stemness and migratory characteristics. Three-and-a-half months after surgery, the patient presented with a subcutaneous tumor of the scalp at the surgical site and dyspnea. Imaging studies revealed tumors in the scalp, multiple intracranial locations, and the lungs, complicating a pneumothorax. He died of respiratory failure approximately 4.5 months after tumor resection. An autopsy revealed extra-axial tumors involving the sub/epidural, scalp, and intrathoracic regions, each consisting of tumor cells resembling those of the poorly differentiated astrocytic component observed in the original right frontal tumor. Genetic and copy number analysis proved that the extra-axial tumors were metastatic lesions originating from the right frontal glioblastoma, as MET and CDK6 amplification and TERT promoter mutation were shared in all tumors. These genomic alterations and stemness might contribute to the rapid development of extracranial glioblastoma metastasis and a worse prognosis.
我们报告了一例77岁男性胶质母细胞瘤(异柠檬酸脱氢酶野生型)颅外转移的罕见病例,该患者最初表现为右侧额叶肿瘤,接受了肿瘤全切及辅助放化疗。肿瘤在组织学上由两种细胞成分组成:星形细胞和低分化星形细胞瘤细胞,二者均对胶质标志物呈强阳性且表达频率较低。重要的是,两种成分均对巢蛋白和CD44呈阳性,表明具有干性和迁移特性。术后三个半月,患者在手术部位出现头皮皮下肿瘤并伴有呼吸困难。影像学检查显示头皮、多个颅内部位及肺部有肿瘤,并发气胸。患者在肿瘤切除后约4.5个月死于呼吸衰竭。尸检发现轴外肿瘤累及硬膜下/外、头皮及胸腔内区域,每个部位的肿瘤细胞均类似于最初右侧额叶肿瘤中观察到的低分化星形细胞成分。基因和拷贝数分析证实,轴外肿瘤是源自右侧额叶胶质母细胞瘤的转移灶,因为所有肿瘤均存在MET和CDK6扩增以及TERT启动子突变。这些基因组改变和干性可能导致颅外胶质母细胞瘤转移迅速发展且预后更差。