Glioblastoma with BRAFV600E mutation and numerous metastatic foci: a case report
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 wi...
| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Termedia Publishing House
2019-03-01
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| Series: | Folia Neuropathologica |
| Subjects: | |
| Online Access: | https://www.termedia.pl/Glioblastoma-with-BRAFV600E-mutation-and-numerous-metastatic-foci-a-case-report,20,36147,1,1.html |
| _version_ | 1819103269310431232 |
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| author | Karolina Janik Waldemar Och Marta Popeda Kamila Rosiak Joanna Peciak Piotr Rieske Kamil Kulbacki Blazej Szostak Agnieszka Parda Ewelina Stoczynska-Fidelus |
| author_facet | Karolina Janik Waldemar Och Marta Popeda Kamila Rosiak Joanna Peciak Piotr Rieske Kamil Kulbacki Blazej Szostak Agnieszka Parda Ewelina Stoczynska-Fidelus |
| author_sort | Karolina Janik |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-22T01:47:46Z |
| format | Article |
| id | doaj.art-3805579c7ef248698199601441493995 |
| institution | Directory Open Access Journal |
| issn | 1641-4640 1509-572X |
| language | English |
| last_indexed | 2024-12-22T01:47:46Z |
| publishDate | 2019-03-01 |
| publisher | Termedia Publishing House |
| record_format | Article |
| series | Folia Neuropathologica |
| spelling | doaj.art-3805579c7ef2486981996014414939952022-12-21T18:43:01ZengTermedia Publishing HouseFolia Neuropathologica1641-46401509-572X2019-03-01571727910.5114/fn.2019.8383336147Glioblastoma with BRAFV600E mutation and numerous metastatic foci: a case reportKarolina JanikWaldemar OchMarta PopedaKamila RosiakJoanna PeciakPiotr RieskeKamil KulbackiBlazej SzostakAgnieszka PardaEwelina Stoczynska-FidelusGlioblastoma, 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.https://www.termedia.pl/Glioblastoma-with-BRAFV600E-mutation-and-numerous-metastatic-foci-a-case-report,20,36147,1,1.htmlglioblastoma brafv600e next generation sequencing |
| spellingShingle | Karolina Janik Waldemar Och Marta Popeda Kamila Rosiak Joanna Peciak Piotr Rieske Kamil Kulbacki Blazej Szostak Agnieszka Parda Ewelina Stoczynska-Fidelus Glioblastoma with BRAFV600E mutation and numerous metastatic foci: a case report Folia Neuropathologica glioblastoma brafv600e next generation sequencing |
| title | Glioblastoma with BRAFV600E mutation and numerous metastatic foci: a case report |
| title_full | Glioblastoma with BRAFV600E mutation and numerous metastatic foci: a case report |
| title_fullStr | Glioblastoma with BRAFV600E mutation and numerous metastatic foci: a case report |
| title_full_unstemmed | Glioblastoma with BRAFV600E mutation and numerous metastatic foci: a case report |
| title_short | Glioblastoma with BRAFV600E mutation and numerous metastatic foci: a case report |
| title_sort | glioblastoma with brafv600e mutation and numerous metastatic foci a case report |
| topic | glioblastoma brafv600e next generation sequencing |
| url | https://www.termedia.pl/Glioblastoma-with-BRAFV600E-mutation-and-numerous-metastatic-foci-a-case-report,20,36147,1,1.html |
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