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Título: | Whole-Exome sequencing reveals recurrent but heterogeneous mutational profiles in sporadic who grade 1 meningiomas |
Autor: | González-Tablas, María; Prieto, Carlos CSIC ORCID ; Arandia, Daniel; Jara-Acevedo, Maria; Otero, Álvaro; Pascual, Daniel CSIC ORCID; Ruíz, Laura; Álvarez-Twose, Iván; García-Montero, Andrés CSIC ORCID; Orfao, Alberto CSIC ORCID ; Tabernero, María D. | Palabras clave: | Mutational profiles Whole exome sequencing (WES) NF2 PTEN Cytogenetics WHO grade 1 meningioma |
Fecha de publicación: | nov-2021 | Editor: | Frontiers Media | Citación: | Frontiers in Oncology 11: 740782 (2021) | Resumen: | Human WHO grade 1 meningiomas are generally considered benign tumors; despite this, they account for ≈50% of all recurrent meningiomas. Currently, limited data exist about the mutational profiles of grade 1 meningiomas and patient outcome. We investigated the genetic variants present in 32 WHO grade 1 meningiomas using whole exome sequencing, and correlated gene mutational profiles with tumor cytogenetics and patient outcome. Overall, WHO grade 1 meningiomas harbored numerous and heterogeneous genetic variants, which most frequently affected the NF2 (47%) gene and to a less extent the PNMA6A (22%), TIGD1 (16%), SMO (13%), PTEN (13%), CREG2 (9%), EEF1A1 (6%), POLR2A (6%), ARID1B (3%), and FAIM3 (3%) genes. Notably, non-synonymous genetic variants of SMO and POLR2A were restricted to diploid meningiomas, whereas NF2 mutations were only found among tumors that showed -22/22q─ (with or without a complex karyotype). Based on NF2 mutations and tumor cytogenetics, four genetic profiles were defined with an impact on patient recurrence-free survival (RFS). These included (1) two good-prognosis tumor subgroups—diploid meningiomas (n=9) and isolated -22/22q─ associated with NF2 mutation (n=7)—with RFS rates at 10 y of 100%; and (2) two subgroups of poor-prognosis meningiomas—isolated -22/22q─ without NF2 mutation (n=3) and tumors with complex karyotypes (n=11)—with a RFS rate at 10 y of 48% (p=0.003). Our results point out the existence of recurrent but heterogeneous mutational profiles in WHO grade 1 meningiomas which have an impact on patient outcome. | Descripción: | © 2021 González-Tablas, Prieto, Arandia, Jara-Acevedo, Otero, Pascual, Ruíz, Álvarez-Twose, García-Montero, Orfao and Tabernero. | Versión del editor: | http://dx.doi.org/10.3389/fonc.2021.740782 | URI: | http://hdl.handle.net/10261/262431 | DOI: | 10.3389/fonc.2021.740782 | E-ISSN: | 2234-943X |
Aparece en las colecciones: | (IBMCC) Artículos |
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Whole-Exome Sequencing_Gonzalez_PV_Art2021.pdf | 3,52 MB | Adobe PDF | Visualizar/Abrir |
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