Department of Neuro-Oncology, The University of Texas MD Anderson Cancer Center, Houston, TX, United States.
Department of Investigational Cancer Therapeutics, The University of Texas MD Anderson Cancer Center, Houston, TX, United States.
Oncologist. 2024 Sep 6;29(9):811-816. doi: 10.1093/oncolo/oyae115.
Glioblastoma, the most common malignant brain tumor in adults, is associated with a median overall survival duration of less than 2 years. Extraneural metastases occur in less than 1% of all patients with glioblastoma. The mechanism of extraneural metastasis is unclear. We present a case of extensive extraneural, extraosseous, epidural, and soft-tissue metastasis of glioblastoma. The diagnosis of metastatic glioblastoma was made only after next-generation sequencing (NGS) of the metastatic paraspinal lesions was completed. The CDK4, pTERT, PTEN, and TP53 molecular alterations seen in the initial intracranial glioblastoma were found in the paraspinal tumor, along with the addition of MYC, which is implicated in angiogenesis and epidermal-to-mesenchymal transition. Immunohistochemical stains showed that neoplastic cells were negative for GFAP. In conclusion, this case raises awareness about the role of NGS in the diagnosis of extraneural glioblastoma. This diagnosis was not possible with histology alone and only became evident after molecular profiling of the metastatic lesions and its comparison to the original tumor.
胶质母细胞瘤是成人中最常见的恶性脑肿瘤，中位总生存期不到 2 年。不到 1%的胶质母细胞瘤患者发生颅外转移。颅外转移的机制尚不清楚。我们报告了一例广泛的颅外、骨外、硬膜外和软组织转移的胶质母细胞瘤病例。只有在完成转移性脊柱旁病变的下一代测序（NGS）后，才诊断为转移性胶质母细胞瘤。在初始颅内胶质母细胞瘤中发现的 CDK4、pTERT、PTEN 和 TP53 分子改变，以及参与血管生成和上皮-间充质转化的 MYC 改变，也存在于脊柱旁肿瘤中。免疫组化染色显示肿瘤细胞胶质纤维酸性蛋白（GFAP）阴性。总之，该病例提高了对 NGS 在诊断颅外胶质母细胞瘤中的作用的认识。仅通过组织学检查无法做出这一诊断，只有在对转移病变进行分子分析并与原始肿瘤进行比较后，才能明确诊断。
