[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.

journal_name

Folia Neuropathol

journal_title

Folia neuropathologica

authors

Janik K,Och W,Popeda M,Rosiak K,Peciak J,Rieske P,Kulbacki K,Szostak B,Parda A,Stoczynska-Fidelus E

doi

10.5114/fn.2019.83833

subject

Has Abstract

pub_date

2019-01-01 00:00:00

pages

72-79

issue

1

eissn

1641-4640

issn

1509-572X

pii

36147

journal_volume

57

pub_type

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