@Article{Janik2019,
journal="Folia Neuropathologica",
issn="1641-4640",
volume="57",
number="1",
year="2019",
title="Glioblastoma with BRAFV600E mutation and numerous metastatic foci: a case report",
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.",
author="Janik, Karolina
and Och, Waldemar
and Popeda, Marta
and Rosiak, Kamila
and Peciak, Joanna
and Rieske, Piotr
and Kulbacki, Kamil
and Szostak, Blazej
and Parda, Agnieszka
and Stoczynska-Fidelus, Ewelina",
pages="72--79",
doi="10.5114/fn.2019.83833",
url="http://dx.doi.org/10.5114/fn.2019.83833"
}