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Genotyping low-grade gliomas among hispanics

dc.contributorPontificia Universidad Javeriana. Facultad de Medicina. Departamento de Medicina Interna. Grupo de Investigación de Enfermedades Crónicas del Adulto
dc.creatorRojas Puentes, Luis Leonardo
dc.creatorCardona, Andrés Felipe
dc.creatorWills, Beatriz
dc.creatorBehaine, José
dc.creatorJiménez, Enrique
dc.creatorHakim, Fernando
dc.creatorUseche, Nicolás
dc.creatorBermúdez, Sonia
dc.creatorArrieta, Oscar
dc.creatorMejía, Armando
dc.creatorRamón, Juan Fernando
dc.creatorCarranza, Hernán
dc.creatorVargas, Carlos
dc.creatorOtero, Jorge
dc.creatorGonzález, Diego
dc.creatorRodríguez, July
dc.creatorOrtiz, León Darío
dc.creatorCifuentes, Hernando
dc.creatorBalaña, Carmen
dc.date2020-04-13T18:51:02Z
dc.date2020-05-08T15:22:53Z
dc.date2020-04-13T18:51:02Z
dc.date2020-05-08T15:22:53Z
dc.date2016-01-28
dc.date.accessioned2025-10-30T14:07:59Z
dc.date.available2025-10-30T14:07:59Z
dc.identifierhttps://academic.oup.com/nop/article/3/3/164/2238246
dc.identifier2054-2577 - 2054-2585 (Electrónico)
dc.identifierhttp://hdl.handle.net/10554/48149
dc.identifierhttps://doi.org/10.1093/nop/npv061
dc.identifier.urihttp://test.repositoriodigital.com:8080/handle/123456789/194514
dc.descriptionQ2
dc.description164-172
dc.descriptionBackground. Low-grade gliomas (LGGs) are classified by the World Health Organization as astrocytoma (DA), oligodendroglioma (OD), and mixed oligoastrocytoma (OA). TP53 mutation and 1p19q codeletion are the most-commonly documented molecular abnormalities. Isocitrate dehydrogenase (IDH) 1/2 mutations are frequent in LGGs; however, IDH-negative gliomas can also occur. Recent research suggests that ATRX plays a significant role in gliomagenesis. Methods. We investigated p53 and Olig2 protein expression, and MGMT promoter methylation, 1p19q codeletion, IDH, and ATRX status in 63 Colombian patients with LGG. The overall survival (OS) rate was estimated and compared according to genotype. Results. The most common histology was DA, followed by OD and OA. IDH1/2 mutations were found in 57.1% and MGMT+ (positive status of MGMT promoter methylation methyl-guanyl-methyl-transferase gene) in 65.1% of patients, while overexpression of p53 and Olig2 was present in 30.2% and 44.4%, respectively, and 1p19q codeletion in 34.9% of the patients. Overexpression of ATRX was analyzed in 25 patients, 16% tested positive and were also mutations in isocitrate dehydrogenase and negative 1p19q-codelition. The median follow-up was 15.8 months (95% CI, 7.6–42.0) and OS was 39.2 months (95% CI, 1.3–114). OS was positively and significantly affected by MGMT+, 1p19q codeletion, surgical intervention extent, and number of lobes involved. Multivariate analysis confirmed that MGMT methylation status and 1p19q codeletion affected OS. Conclusions. This is the first study evaluating the molecular profile of Hispanic LGG patients. Findings confirmed the prognostic relevance of MGMT methylation and 1p19q codeletion, but do not support IDH1/2 mutation as a relevant marker. The latter may be explained by sample size and selection bias. ATRX alterations were limited to patients with DA and were mutations in isocitrate dehydrogenase and negative 1p19q-codelition.
dc.formatPDF
dc.formatapplication/pdf
dc.formatPapel / Electrónico
dc.formatapplication/pdf
dc.languagespa
dc.rightsAtribución-NoComercial 4.0 Internacional
dc.rightshttp://creativecommons.org/licenses/by-nc/4.0/
dc.sourceNeuro Oncology Practice; Vol. 3 (2016)
dc.subjectBiomarker
dc.subjectHispanics
dc.subjectLow-grade gliomas
dc.subjectMolecular profile
dc.subjectPrognosis
dc.titleGenotyping low-grade gliomas among hispanics
dc.typeinfo:eu-repo/semantics/article
dc.typehttp://purl.org/coar/version/c_ab4af688f83e57aa
dc.typeArtículo de revista


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