Study of gliomas: large-scale sequencing analysis, molecular techniques, imaging techniques and clinical data analysis. Generation of a diagnostic platform. (Q3209282): Difference between revisions
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(Created claim: summary (P836): Gliomas constitute a clinically heterogeneous tumor entity, encompassing various histological subtypes and degrees. Although they are not yet included in the WHO diagnostic criteria, specific molecular alterations have been identified in some glioma subtypes, such as 1p/19q co-deletion in oligodendroglial tumors associated with better prognosis and response to treatment. Another marker of good prognosis is mutation in IDH genes, an early event i...) |
(Changed label, description and/or aliases in en: translated_label) |
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Study of gliomas: large-scale sequencing analysis, molecular techniques, imaging techniques and clinical data analysis. Generation of a diagnostic platform. | |||
Revision as of 09:30, 14 October 2021
Project Q3209282 in Spain
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | Study of gliomas: large-scale sequencing analysis, molecular techniques, imaging techniques and clinical data analysis. Generation of a diagnostic platform. |
Project Q3209282 in Spain |
Statements
52,800.0 Euro
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66,000.0 Euro
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80.0 percent
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1 January 2014
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31 March 2018
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FUNDACION DEL HOSPITAL NACIONAL DE PARAPLEJICOS
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39°51'21.85"N, 4°1'26.26"W
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45168
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Los gliomas constituyen una entidad tumoral clínicamente heterogénea, que engloba diversos subtipos y grados histológicos. Aunque todavía no se incluyen entre los criterios diagnósticos de la OMS, se han identificado alteraciones moleculares específicas en algunos subtipos de gliomas, como la codeleción de 1p/19q en tumores oligodendrogliales que se relaciona con un mejor pronóstico y respuesta al tratamiento. Otro marcador de buen pronóstico es la mutación en los genes IDH, un evento temprano en la gliomagénesis. Recientemente se ha demostrado que esta mutación provoca una hipermetilación generalizada del genoma (fenotipo CIMP+). Nuestro grupo ha descrito que este fenotipo hipermetilador es modulado por la pérdida de 1p/19q (fenotipo codelecionado CD-CIMP+). Por tanto, los casos de buen pronóstico presentan mutación de IDH, pérdida de 1p/19q y fenotipo CD-CIMP+. Sin embargo, se conoce poco de las alteraciones moleculares que se asocian a la mutación de IDH en ausencia de codeleción, y se desconocen totalmente as alteraciones moleculares de los tumores sin mutación de IDH. Los trabajos recientes de secuenciación a gran escala en gliomas han identificando nuevas mutaciones recurrentes en algunos genes (CIC, ATRX, H3F3A entre otros). Nuestra hipótesis es que los tumores gliales pueden clasificarse según la combinación de alteraciones moleculares que presenten, teniendo distinto pronóstico y condicionando así el tratamiento. Los objetivos principales son: (i) analizar las alteraciones moleculares de los gliomas mediante el análisis mutacional simultáneo de un gran número de genes en una plataforma de análisis masivo, determinando su valor diagnóstico, pronóstico y la correlación con pruebas de imagen; (ii) identificar nuevas alteraciones moleculares en tumores sin mutación de IDH mediante la secuenciación del exoma en casos seleccionados; (iii) Generar una plataforma de secuenciación diseñada específicamente para el diagnóstico y estudio de los gliomas. (Spanish)
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Gliomas constitute a clinically heterogeneous tumor entity, encompassing various histological subtypes and degrees. Although they are not yet included in the WHO diagnostic criteria, specific molecular alterations have been identified in some glioma subtypes, such as 1p/19q co-deletion in oligodendroglial tumors associated with better prognosis and response to treatment. Another marker of good prognosis is mutation in IDH genes, an early event in gliomagenesis. This mutation has recently been shown to cause generalised hypermethylation of the genome (CIMP+ phenotype). Our group has described that this hypermethylator phenotype is modulated by the loss of 1p/19q (collectively CD-CIMP+ phenotype). Therefore, cases of good prognosis have HDI mutation, 1p/19q loss and CD-CIMP+ phenotype. However, little is known of the molecular alterations associated with the HDI mutation in the absence of co-lection, and molecular alterations of tumors without HDI mutation are totally unknown. Recent large-scale sequencing work on gliomas has identified new recurrent mutations in some genes (CIC, ATRX, H3F3A among others). Our hypothesis is that glial tumors can be classified according to the combination of molecular alterations they present, having different prognosis and thus conditioning treatment. The main objectives are: (I) analyse the molecular alterations of gliomas by simultaneous mutational analysis of a large number of genes in a mass analysis platform, determining their diagnostic value, prognosis and correlation with imaging tests; (II) identify new molecular alterations in tumors without HDI mutation by sequencing the exome in selected cases; (III) Generate a sequencing platform specifically designed for the diagnosis and study of gliomas. (English)
14 October 2021
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Toledo
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Identifiers
PI13_00800
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