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

doi:10.5114/fn.2019.83833

eISSN: 1509-572x
ISSN: 1641-4640

Folia Neuropathologica

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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

DOI: https://doi.org/10.5114/fn.2019.83833

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 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

glioblastoma, BRAFV600E, next generation sequencing

Karolina Janik

,

Waldemar Och

,

Marta Popeda

,

Kamila Rosiak

,

Joanna Peciak

,

Piotr Rieske

,

Kamil Kulbacki

,

Blazej Szostak

,

Agnieszka Parda

,

Ewelina Stoczynska-Fidelus