eISSN: 1509-572x
ISSN: 1641-4640
Folia Neuropathologica
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SCImago Journal & Country Rank
1/2019
vol. 57
 
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abstract:
Case report

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

Karolina Janik
,
Waldemar Och
,
Marta Popeda
,
Kamila Rosiak
,
Joanna Peciak
,
Piotr Rieske
,
Kamil Kulbacki
,
Blazej Szostak
,
Agnieszka Parda
,
Ewelina Stoczynska-Fidelus

Folia Neuropathol 2019; 57 (1): 72-79
Online publish date: 2019/03/29
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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.
keywords:

glioblastoma, BRAFV600E, next generation sequencing

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