Low-grade developmental and epilepsy associated brain tumors: a critical update 2020
Abstract Brain tumors represent the second most frequent etiology in patients with focal seizure onset before 18 years of age and submitted to epilepsy surgery. Hence, this category of brain tumors, herein defined as low-grade, developmental, epilepsy-associated brain tumors (LEAT) is different from...
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| Format: | Article |
| Language: | English |
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BMC
2020-03-01
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| Series: | Acta Neuropathologica Communications |
| Subjects: | |
| Online Access: | http://link.springer.com/article/10.1186/s40478-020-00904-x |
| _version_ | 1818499204522180608 |
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| author | Rutger Juriaan Slegers Ingmar Blumcke |
| author_facet | Rutger Juriaan Slegers Ingmar Blumcke |
| author_sort | Rutger Juriaan Slegers |
| collection | DOAJ |
| description | Abstract Brain tumors represent the second most frequent etiology in patients with focal seizure onset before 18 years of age and submitted to epilepsy surgery. Hence, this category of brain tumors, herein defined as low-grade, developmental, epilepsy-associated brain tumors (LEAT) is different from those frequently encountered in adults as (A): 77% of LEAT occur in the temporal lobe; (B): the vast majority of LEAT are of low malignancy and classified as WHO I°; (C): LEAT are often composed of mixed glial and neuronal cell components and present with variable growth patterns including small cysts or nodules; (D): LEAT do not share common gene driving mutations, such as IDH1 or 1p/19q co-deletions. Characteristic entities comprise the ganglioglioma (GG), the dysembryoplastic neuroepithelial tumor (DNT), the angiocentric glioma (AG), the isomorphic diffuse glioma (IDG) and the papillary glio-neuronal tumor (PGNT), representing 73.2% of 1680 tumors collected in a large German series of 6747 patients submitted to epilepsy surgery. In the realm of exciting discoveries of genetic drivers of brain tumors new genes have been also reported for LEAT. BRAF V600E mutations were linked to GG with CD34 expression, FGFR1 mutations to DNT, MYB alterations to AG and also IDG and PRKCA fusions to PGNT, suggesting the possibility to also develop a genetically driven tumor classification scheme for LEAT. Rare availability of LEAT in a single center is a challenging obstacle, however, to systematically unravel the neurobiological nature and clinical behavior of LEAT. Other challenges in need of clarification include malignant tumor progression of LEAT entities, seizure relapse in patients following bulk tumor resection and the controversial issue of associated focal cortical dysplasia as additional pathomechanism. In order to advance our understanding and promote reliable diagnostic work-up of LEAT, we recommend, therefore, international collaboration to achieve our goals. |
| first_indexed | 2024-12-10T20:26:17Z |
| format | Article |
| id | doaj.art-beccfe41539449dca3b9934b025a5c1d |
| institution | Directory Open Access Journal |
| issn | 2051-5960 |
| language | English |
| last_indexed | 2024-12-10T20:26:17Z |
| publishDate | 2020-03-01 |
| publisher | BMC |
| record_format | Article |
| series | Acta Neuropathologica Communications |
| spelling | doaj.art-beccfe41539449dca3b9934b025a5c1d2022-12-22T01:34:52ZengBMCActa Neuropathologica Communications2051-59602020-03-018111110.1186/s40478-020-00904-xLow-grade developmental and epilepsy associated brain tumors: a critical update 2020Rutger Juriaan Slegers0Ingmar Blumcke1Faculty of Health, Medicine and Life Sciences, Maastricht UniversityDepartment of Neuropathology, University Hospitals ErlangenAbstract Brain tumors represent the second most frequent etiology in patients with focal seizure onset before 18 years of age and submitted to epilepsy surgery. Hence, this category of brain tumors, herein defined as low-grade, developmental, epilepsy-associated brain tumors (LEAT) is different from those frequently encountered in adults as (A): 77% of LEAT occur in the temporal lobe; (B): the vast majority of LEAT are of low malignancy and classified as WHO I°; (C): LEAT are often composed of mixed glial and neuronal cell components and present with variable growth patterns including small cysts or nodules; (D): LEAT do not share common gene driving mutations, such as IDH1 or 1p/19q co-deletions. Characteristic entities comprise the ganglioglioma (GG), the dysembryoplastic neuroepithelial tumor (DNT), the angiocentric glioma (AG), the isomorphic diffuse glioma (IDG) and the papillary glio-neuronal tumor (PGNT), representing 73.2% of 1680 tumors collected in a large German series of 6747 patients submitted to epilepsy surgery. In the realm of exciting discoveries of genetic drivers of brain tumors new genes have been also reported for LEAT. BRAF V600E mutations were linked to GG with CD34 expression, FGFR1 mutations to DNT, MYB alterations to AG and also IDG and PRKCA fusions to PGNT, suggesting the possibility to also develop a genetically driven tumor classification scheme for LEAT. Rare availability of LEAT in a single center is a challenging obstacle, however, to systematically unravel the neurobiological nature and clinical behavior of LEAT. Other challenges in need of clarification include malignant tumor progression of LEAT entities, seizure relapse in patients following bulk tumor resection and the controversial issue of associated focal cortical dysplasia as additional pathomechanism. In order to advance our understanding and promote reliable diagnostic work-up of LEAT, we recommend, therefore, international collaboration to achieve our goals.http://link.springer.com/article/10.1186/s40478-020-00904-xPathologySeizureGangliogliomaAstrocytomaOligodendroglioma |
| spellingShingle | Rutger Juriaan Slegers Ingmar Blumcke Low-grade developmental and epilepsy associated brain tumors: a critical update 2020 Acta Neuropathologica Communications Pathology Seizure Ganglioglioma Astrocytoma Oligodendroglioma |
| title | Low-grade developmental and epilepsy associated brain tumors: a critical update 2020 |
| title_full | Low-grade developmental and epilepsy associated brain tumors: a critical update 2020 |
| title_fullStr | Low-grade developmental and epilepsy associated brain tumors: a critical update 2020 |
| title_full_unstemmed | Low-grade developmental and epilepsy associated brain tumors: a critical update 2020 |
| title_short | Low-grade developmental and epilepsy associated brain tumors: a critical update 2020 |
| title_sort | low grade developmental and epilepsy associated brain tumors a critical update 2020 |
| topic | Pathology Seizure Ganglioglioma Astrocytoma Oligodendroglioma |
| url | http://link.springer.com/article/10.1186/s40478-020-00904-x |
| work_keys_str_mv | AT rutgerjuriaanslegers lowgradedevelopmentalandepilepsyassociatedbraintumorsacriticalupdate2020 AT ingmarblumcke lowgradedevelopmentalandepilepsyassociatedbraintumorsacriticalupdate2020 |