2026-08-29T14:15:10Zhttps://repisalud.isciii.es/rest/oai/requestoai:repisalud.isciii.es:20.500.12105/181992024-11-29T14:56:45Zcom_20.500.12105_2173com_20.500.12105_2051col_20.500.12105_19597
Repisalud
author
Monteagudo, María
author
Martínez, Paula
author
Leandro-García, Luis J
author
Martínez-Montes, Ángel M
author
Calsina, Bruna
author
Pulgarín-Alfaro, Marta
author
Díaz-Talavera, Alberto
author
Mellid, Sara
author
Letón, Rocío
author
Gil, Eduardo
author
Pérez-Martínez, Manuel
author
Megías, Diego
author
Torres-Ruiz, Raúl
author
Rodriguez-Perales, Sandra
author
González, Patricia
author
Caleiras, Eduardo
author
Jiménez-Villa, Scherezade
author
Roncador, Giovanna
author
Álvarez-Escolá, Cristina
author
Regojo, Rita M
author
Calatayud, María
author
Guadalix, Sonsoles
author
Currás-Freixes, Maria
author
Rapizzi, Elena
author
Canu, Letizia
author
Nölting, Svenja
author
Remde, Hanna
author
Fassnacht, Martin
author
Bechmann, Nicole
author
Eisenhofer, Graeme
author
Mannelli, Massimo
author
Beuschlein, Felix
author
Quinkler, Marcus
author
Rodríguez-Antona, Cristina
author
Cascón, Alberto
author
Blasco, MA
author
Montero-Conde, Cristina
author
Robledo, Mercedes
funder
Unión Europea. Fondo Europeo de Desarrollo Regional (FEDER/ERDF)
funder
Ministerio de Ciencia, Innovación y Universidades (España)
funder
Comunidad de Madrid (España)
funder
Botín Foundation
funder
Fundación La Caixa
funder
Instituto de Salud Carlos III
funder
German Research Foundation
2024-02-14T11:28:00Z
2024-02-14T11:28:00Z
2021-09-23
Cancers (Basel) . 2021 Sep 23;13(19):4758.
10.3390/cancers13194758
2072-6694
Cancers
34638246
http://hdl.handle.net/20.500.12105/18199
One of the main problems we face with PPGL is the lack of molecular markers capable of predicting the development of metastases in patients. Telomere-related genes, such as TERT and ATRX, have been recently described in PPGL, supporting the association between the activation of immortalization mechanisms and disease progression. However, the contribution of other genes involving telomere preservation machinery has not been previously investigated. In this work, we aimed to analyze the prognostic value of a comprehensive set of genes involved in telomere maintenance. For this study, we collected 165 PPGL samples (97 non-metastatic/63 metastatic), genetically characterized, in which the expression of 29 genes of interest was studied by NGS. Three of the 29 genes studied, TERT, ATRX and NOP10, showed differential expression between metastatic and non-metastatic cases, and alterations in these genes were associated with a shorter time to progression, independent of SDHB-status. We studied telomere length by Q-FISH in patient samples and in an in vitro model. NOP10 overexpressing tumors displayed an intermediate-length telomere phenotype without ALT, and in vitro results suggest that NOP10 has a role in telomerase-dependent telomere maintenance. We also propose the implementation of NOP10 IHC to better stratify PPGL patients.
eng
Analysis of Telomere Maintenance Related Genes Reveals NOP10 as a New Metastatic-Risk Marker in Pheochromocytoma/Paraganglioma.
journal article
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URL
https://repisalud.isciii.es/bitstreams/0ea9caf1-988e-41b8-bec5-bf3f0d6ab319/download
File
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application/pdf
AnalysisofTelomereMaintenance_2021.pdf
URL
https://repisalud.isciii.es/bitstreams/8a8237f6-fd14-4a92-bda2-6156839a039c/download
File
MD5
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text/plain
AnalysisofTelomereMaintenance_2021.pdf.txt