2026-08-29T14:15:15Zhttps://repisalud.isciii.es/rest/oai/request

oai:repisalud.isciii.es:20.500.12105/181992024-11-29T14:56:45Zcom_20.500.12105_2173com_20.500.12105_2051col_20.500.12105_19597

00925njm 22002777a 4500 dc 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 author 2021-09-23 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. Cancers (Basel) . 2021 Sep 23;13(19):4758. 10.3390/cancers13194758 2072-6694 Cancers 34638246 http://hdl.handle.net/20.500.12105/18199 Analysis of Telomere Maintenance Related Genes Reveals NOP10 as a New Metastatic-Risk Marker in Pheochromocytoma/Paraganglioma.