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Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT
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| Veröffentlicht in: | Acta Neuropathologica Communications pages:1-11; elocationid:140; volume:7; extent:11; 7(2019), Artikel-ID 140, Seite 1-11; year:2019 |
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| Personen und Körperschaften: | , , , , , , , |
| Titel: | Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT/ Gerhard Jungwirth, Rolf Warta, Christopher Beynon, Felix Sahm, Andreas von Deimling, Andreas Unterberg, Christel Herold-Mende and Christine Jungk |
| Format: | E-Book-Kapitel |
| Sprache: | Englisch |
| veröffentlicht: |
30 August 2019
|
| Gesamtaufnahme: |
: Acta Neuropathologica Communications, 7(2019), Artikel-ID 140, Seite 1-11
, volume:7 |
| Quelle: | Verbunddaten SWB Lizenzfreie Online-Ressourcen |
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| 245 | 1 | 0 | |a Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT |c Gerhard Jungwirth, Rolf Warta, Christopher Beynon, Felix Sahm, Andreas von Deimling, Andreas Unterberg, Christel Herold-Mende and Christine Jungk |
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| 520 | |a Intraventricular meningiomas (IVMs) account for less than 5% of all intracranial meningiomas; hence their molecular phenotype remains unknown. In this study, we were interested whether genetic alterations in IVMs differ from meningiomas in other locations and analyzed our institutional series with respect to clinical and molecular characteristics. A total of 25 patients with surgical removal of an IVM at our department between 1986 and 2018 were identified from our institutional database. Median progression-free survival (PFS) was 79 months (range of 2-319 months) and PFS at 5 years was 86%. Corresponding tumor tissue was available for 18 patients including one matching recurrence and was subjected to targeted panel sequencing of 130 selected genes frequently mutated in brain cancers by applying a custom hybrid capture approach on a NextSeq500 instrument. Loss of chromosome 22q and 1p occurred frequently in 89 and 44% of cases. Deleterious NF2 mutations were found in 44% of IVMs (n = 8/18). In non-NF2-mutated IVMs, previously reported genetic alterations including TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT were lacking, suggesting alternative genes in the pathogenesis of non-NF2 IVMs. In silico analysis revealed possible damaging mutations of APC, GABRA6, GSE1, KDR, and two SMO missense mutations differing from previously reported ones. Interestingly, all WHO°II IVMs (n = 3) harbored SMARCB1 and SMARCA4 mutations, indicating a role of the SWI/SNF chromatin remodeling complex in aggressive IVMs. | ||
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| author | Jungwirth, Gerhard, Warta, Rolf, Beynon, Christopher, Sahm, Felix, Deimling, Andreas von, Unterberg, Andreas, Herold-Mende, Christel, Jungk, Christine |
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| contents | Intraventricular meningiomas (IVMs) account for less than 5% of all intracranial meningiomas; hence their molecular phenotype remains unknown. In this study, we were interested whether genetic alterations in IVMs differ from meningiomas in other locations and analyzed our institutional series with respect to clinical and molecular characteristics. A total of 25 patients with surgical removal of an IVM at our department between 1986 and 2018 were identified from our institutional database. Median progression-free survival (PFS) was 79 months (range of 2-319 months) and PFS at 5 years was 86%. Corresponding tumor tissue was available for 18 patients including one matching recurrence and was subjected to targeted panel sequencing of 130 selected genes frequently mutated in brain cancers by applying a custom hybrid capture approach on a NextSeq500 instrument. Loss of chromosome 22q and 1p occurred frequently in 89 and 44% of cases. Deleterious NF2 mutations were found in 44% of IVMs (n = 8/18). In non-NF2-mutated IVMs, previously reported genetic alterations including TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT were lacking, suggesting alternative genes in the pathogenesis of non-NF2 IVMs. In silico analysis revealed possible damaging mutations of APC, GABRA6, GSE1, KDR, and two SMO missense mutations differing from previously reported ones. Interestingly, all WHO°II IVMs (n = 3) harbored SMARCB1 and SMARCA4 mutations, indicating a role of the SWI/SNF chromatin remodeling complex in aggressive IVMs. |
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| spelling | Jungwirth, Gerhard VerfasserIn (DE-588)1199298409 (DE-627)1681586568 aut, Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT Gerhard Jungwirth, Rolf Warta, Christopher Beynon, Felix Sahm, Andreas von Deimling, Andreas Unterberg, Christel Herold-Mende and Christine Jungk, 30 August 2019, 11, Text txt rdacontent, Computermedien c rdamedia, Online-Ressource cr rdacarrier, Gesehen am 15.11.2019, Intraventricular meningiomas (IVMs) account for less than 5% of all intracranial meningiomas; hence their molecular phenotype remains unknown. In this study, we were interested whether genetic alterations in IVMs differ from meningiomas in other locations and analyzed our institutional series with respect to clinical and molecular characteristics. A total of 25 patients with surgical removal of an IVM at our department between 1986 and 2018 were identified from our institutional database. Median progression-free survival (PFS) was 79 months (range of 2-319 months) and PFS at 5 years was 86%. Corresponding tumor tissue was available for 18 patients including one matching recurrence and was subjected to targeted panel sequencing of 130 selected genes frequently mutated in brain cancers by applying a custom hybrid capture approach on a NextSeq500 instrument. Loss of chromosome 22q and 1p occurred frequently in 89 and 44% of cases. Deleterious NF2 mutations were found in 44% of IVMs (n = 8/18). In non-NF2-mutated IVMs, previously reported genetic alterations including TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT were lacking, suggesting alternative genes in the pathogenesis of non-NF2 IVMs. In silico analysis revealed possible damaging mutations of APC, GABRA6, GSE1, KDR, and two SMO missense mutations differing from previously reported ones. Interestingly, all WHO°II IVMs (n = 3) harbored SMARCB1 and SMARCA4 mutations, indicating a role of the SWI/SNF chromatin remodeling complex in aggressive IVMs., Warta, Rolf 1980- VerfasserIn (DE-588)1047472260 (DE-627)778430839 (DE-576)401088030 aut, Beynon, Christopher 1980- VerfasserIn (DE-588)136046258 (DE-627)57442931X (DE-576)300798806 aut, Sahm, Felix 1984- VerfasserIn (DE-588)1022852132 (DE-627)717318478 (DE-576)366075020 aut, Deimling, Andreas von 1959- VerfasserIn (DE-588)103034115X (DE-627)735093946 (DE-576)378138065 aut, Unterberg, Andreas VerfasserIn (DE-588)1032681187 (DE-627)738641200 (DE-576)168441233 aut, Herold-Mende, Christel VerfasserIn (DE-588)1022936549 (DE-627)717335577 (DE-576)366194267 aut, Jungk, Christine VerfasserIn (DE-588)1051888247 (DE-627)78696765X (DE-576)407515968 aut, Enthalten in Acta Neuropathologica Communications London : Biomed Central, 2013 7(2019), Artikel-ID 140, Seite 1-11 Online-Ressource (DE-627)746066465 (DE-600)2715589-4 (DE-576)382284372 2051-5960 nnns, volume:7 year:2019 elocationid:140 pages:1-11 extent:11, https://doi.org/10.1186/s40478-019-0793-4 Verlag Resolving-System kostenfrei Volltext, https://doi.org/10.1186/s40478-019-0793-4 LFER, LFER epn:3564003568 2019-12-05T00:00:00Z |
| spellingShingle | Jungwirth, Gerhard, Warta, Rolf, Beynon, Christopher, Sahm, Felix, Deimling, Andreas von, Unterberg, Andreas, Herold-Mende, Christel, Jungk, Christine, Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT, Intraventricular meningiomas (IVMs) account for less than 5% of all intracranial meningiomas; hence their molecular phenotype remains unknown. In this study, we were interested whether genetic alterations in IVMs differ from meningiomas in other locations and analyzed our institutional series with respect to clinical and molecular characteristics. A total of 25 patients with surgical removal of an IVM at our department between 1986 and 2018 were identified from our institutional database. Median progression-free survival (PFS) was 79 months (range of 2-319 months) and PFS at 5 years was 86%. Corresponding tumor tissue was available for 18 patients including one matching recurrence and was subjected to targeted panel sequencing of 130 selected genes frequently mutated in brain cancers by applying a custom hybrid capture approach on a NextSeq500 instrument. Loss of chromosome 22q and 1p occurred frequently in 89 and 44% of cases. Deleterious NF2 mutations were found in 44% of IVMs (n = 8/18). In non-NF2-mutated IVMs, previously reported genetic alterations including TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT were lacking, suggesting alternative genes in the pathogenesis of non-NF2 IVMs. In silico analysis revealed possible damaging mutations of APC, GABRA6, GSE1, KDR, and two SMO missense mutations differing from previously reported ones. Interestingly, all WHO°II IVMs (n = 3) harbored SMARCB1 and SMARCA4 mutations, indicating a role of the SWI/SNF chromatin remodeling complex in aggressive IVMs. |
| title | Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT |
| title_auth | Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT |
| title_full | Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT Gerhard Jungwirth, Rolf Warta, Christopher Beynon, Felix Sahm, Andreas von Deimling, Andreas Unterberg, Christel Herold-Mende and Christine Jungk |
| title_fullStr | Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT Gerhard Jungwirth, Rolf Warta, Christopher Beynon, Felix Sahm, Andreas von Deimling, Andreas Unterberg, Christel Herold-Mende and Christine Jungk |
| title_full_unstemmed | Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT Gerhard Jungwirth, Rolf Warta, Christopher Beynon, Felix Sahm, Andreas von Deimling, Andreas Unterberg, Christel Herold-Mende and Christine Jungk |
| title_in_hierarchy | Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT / Gerhard Jungwirth, Rolf Warta, Christopher Beynon, Felix Sahm, Andreas von Deimling, Andreas Unterberg, Christel Herold-Mende and Christine Jungk, |
| title_short | Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT |
| title_sort | intraventricular meningiomas frequently harbor nf2 mutations but lack common genetic alterations in traf7, akt1, smo, klf4, pik3ca, and tert |
| title_unstemmed | Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT |
| url | https://doi.org/10.1186/s40478-019-0793-4 |
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