Glioblastoma, the most malignant astrocytic tumour, is associated with limited survival and thus rare metastases. We analysed a particularly interesting case - a 51-year-old male diagnosed within 2 years with primary and recurrent glioblastoma, isocitrate dehydrogenase (IDH)-wild type, as well as with numerous extra-central nervous system (CNS) metastatic foci. Genetic material obtained from primary and recurrent tumours, as well as from pulmonary metastasis was analysed and compared at a molecular level. Next generation sequencing (NGS) analysis revealed BRAFV600E mutation, detected only in 2-5% of glioblastomas, in both the primary tumour and pulmonary metastases. Importantly, this mutation provides a possible therapeutic option as it constitutes a target for clinically approved inhibitors. This case study not only demonstrates a molecular comparison of primary, recurrent and metastatic glioblastoma, but also emphasizes the need for precise molecular diagnostics, which may facilitate treatment choice, especially in tumours currently lacking efficient treatment.

中文翻译：

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带有BRAFV600E突变和大量转移灶的胶质母细胞瘤：病例报告。

胶质母细胞瘤是最恶性的星形细胞肿瘤，与有限的生存率相关，因此很少发生转移。我们分析了一个特别有趣的病例-一名51岁的男性，在2年内被诊断出患有原发性和复发性胶质母细胞瘤，异柠檬酸脱氢酶（IDH）野生型，以及许多中枢神经系统（CNS）转移灶。从原发性和复发性肿瘤以及肺转移获得的遗传物质在分子水平上进行了分析和比较。下一代测序（NGS）分析显示，BRAFV600E突变仅在原发肿瘤和肺转移中的2-5％的胶质母细胞瘤中检测到。重要的是，这种突变提供了可能的治疗选择，因为它构成了临床批准的抑制剂的靶标。