[Glioblastoma with BRAFV600E mutation and numerous metastatic foci: a  case report].

[Glioblastoma with BRAFV600E mutation and numerous metastatic foci: a case report]. Folia Neuropathol. 2019;57(1):72-79 Authors: Janik K, Och W, Popeda M, Rosiak K, Peciak J, Rieske P, Kulbacki K, Szostak B, Parda A, Stoczynska-Fidelus E Abstract 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. PMID: 31038190 [PubMed - in process]
Source: Folia Neuropathologica - Category: Pathology Authors: Tags: Folia Neuropathol Source Type: research