@article{BliziotisKluijtmansSotoetal.2022,
  author    = {Bliziotis, Nikolaos G. and Kluijtmans, Leo A. J. and Soto, Sebastian and Tinnevelt, Gerjen H. and Langton, Katharina and Robledo, Mercedes and Pamporaki, Christina and Engelke, Udo F. H. and Erlic, Zoran and Engel, Jasper and Deutschbein, Timo and N{\"o}lting, Svenja and Prejbisz, Aleksander and Richter, Susan and Prehn, Cornelia and Adamski, Jerzy and Januszewicz, Andrzej and Reincke, Martin and Fassnacht, Martin and Eisenhofer, Graeme and Beuschlein, Felix and Kroiss, Matthias and Wevers, Ron A. and Jansen, Jeroen J. and Deinum, Jaap and Timmers, Henri J. L. M.},
  title     = {Pre- versus post-operative untargeted plasma nuclear magnetic resonance spectroscopy metabolomics of pheochromocytoma and paraganglioma},
  series = {Endocrine},
  volume    = {75},
  journal   = {Endocrine},
  number    = {1},
  doi       = {10.1007/s12020-021-02858-z},
  url       = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-326574},
  pages     = {254-265},
  year      = {2022},
  abstract  = {Purpose Pheochromocytomas and Paragangliomas (PPGL) result in chronic catecholamine excess and serious health complications. A recent study obtained a metabolic signature in plasma from PPGL patients; however, its targeted nature may have generated an incomplete picture and a broader approach could provide additional insights. We aimed to characterize the plasma metabolome of PPGL patients before and after surgery, using an untargeted approach, and to broaden the scope of the investigated metabolic impact of these tumors. Design A cohort of 36 PPGL patients was investigated. Blood plasma samples were collected before and after surgical tumor removal, in association with clinical and tumor characteristics. Methods Plasma samples were analyzed using untargeted nuclear magnetic resonance (NMR) spectroscopy metabolomics. The data were evaluated using a combination of uni- and multi-variate statistical methods. Results Before surgery, patients with a nonadrenergic tumor could be distinguished from those with an adrenergic tumor based on their metabolic profiles. Tyrosine levels were significantly higher in patients with high compared to those with low BMI. Comparing subgroups of pre-operative samples with their post-operative counterparts, we found a metabolic signature that included ketone bodies, glucose, organic acids, methanol, dimethyl sulfone and amino acids. Three signals with unclear identities were found to be affected. Conclusions Our study suggests that the pathways of glucose and ketone body homeostasis are affected in PPGL patients. BMI-related metabolite levels were also found to be altered, potentially linking muscle atrophy to PPGL. At baseline, patient metabolomes could be discriminated based on their catecholamine phenotype.},
  language  = {en}
}
@article{MonteagudoMartinezLeandroGarciaetal.2021,
  author    = {Monteagudo, Mar{\´i}a and Mart{\´i}nez, Paula and Leandro-Garc{\´i}a, Luis J. and Mart{\´i}nez-Montes, {\´A}ngel M. and Calsina, Bruna and Pulgar{\´i}n-Alfaro, Marta and D{\´i}az-Talavera, Alberto and Mellid, Sara and Let{\´o}n, Roc{\´i}o and Gil, Eduardo and P{\´e}rez-Mart{\´i}nez, Manuel and Meg{\´i}as, Diego and Torres-Ruiz, Ra{\´u}l and Rodriguez-Perales, Sandra and Gonz{\´a}lez, Patricia and Caleiras, Eduardo and Jim{\´e}nez-Villa, Scherezade and Roncador, Giovanna and {\´A}lvarez-Escol{\´a}, Cristina and Regojo, Rita M. and Calatayud, Mar{\´i}a and Guadalix, Sonsoles and Curr{\´a}s-Freixes, Maria and Rapizzi, Elena and Canu, Letizia and N{\"o}lting, Svenja and Remde, Hanna and Fassnacht, Martin and Bechmann, Nicole and Eisenhofer, Graeme and Mannelli, Massimo and Beuschlein, Felix and Quinkler, Marcus and Rodr{\´i}guez-Antona, Cristina and Casc{\´o}n, Alberto and Blasco, Mar{\´i}a A. and Montero-Conde, Cristina and Robledo, Mercedes},
  title     = {Analysis of telomere maintenance related genes reveals NOP10 as a new metastatic-risk marker in pheochromocytoma/paraganglioma},
  series = {Cancers},
  volume    = {13},
  journal   = {Cancers},
  number    = {19},
  issn      = {2072-6694},
  doi       = {10.3390/cancers13194758},
  url       = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-246321},
  year      = {2021},
  abstract  = {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.},
  language  = {en}
}