Genomic and immune landscape Of metastatic pheochromocytoma and paraganglioma

Autor: Bruna Calsina, Elena Piñeiro-Yáñez, Ángel M. Martínez-Montes, Eduardo Caleiras, Ángel Fernández-Sanromán, María Monteagudo, Rafael Torres-Pérez, Coral Fustero-Torre, Marta Pulgarín-Alfaro, Eduardo Gil, Rocío Letón, Scherezade Jiménez, Santiago García-Martín, Maria Carmen Martin, Juan María Roldán-Romero, Javier Lanillos, Sara Mellid, María Santos, Alberto Díaz-Talavera, Ángeles Rubio, Patricia González, Barbara Hernando, Nicole Bechmann, Margo Dona, María Calatayud, Sonsoles Guadalix, Cristina Álvarez-Escolá, Rita M. Regojo, Javier Aller, Maria Isabel Del Olmo-Garcia, Adrià López-Fernández, Stephanie M. J. Fliedner, Elena Rapizzi, Martin Fassnacht, Felix Beuschlein, Marcus Quinkler, Rodrigo A. Toledo, Massimo Mannelli, Henri J. Timmers, Graeme Eisenhofer, Sandra Rodríguez-Perales, Orlando Domínguez, Geoffrey Macintyre, Maria Currás-Freixes, Cristina Rodríguez-Antona, Alberto Cascón, Luis J. Leandro-García, Cristina Montero-Conde, Giovanna Roncador, Juan Fernando García-García, Karel Pacak, Fátima Al-Shahrour, Mercedes Robledo

Publikováno v: Nature Communications, Vol 14, Iss 1, Pp 1-20 (2023)

The molecular mechanisms underlying metastasis in pheochromocytoma/paraganglioma (mPPGL) remain to be explored. Here, the authors perform genomic and immunogenomic profiling of mPPGL tumors and suggest potential biomarkers for risk of metastasis and

Externí odkaz: https://doaj.org/article/69b48437dc7349d2ae46afb0ace70885

Considerations on diagnosis and surveillance measures of PTEN hamartoma tumor syndrome: clinical and genetic study in a series of Spanish patients

Autor: Laura Pena-Couso, María Ercibengoa, Fátima Mercadillo, David Gómez-Sánchez, Lucía Inglada-Pérez, María Santos, Javier Lanillos, David Gutiérrez-Abad, Almudena Hernández, Pablo Carbonell, Rocío Letón, Mercedes Robledo, Cristina Rodríguez-Antona, José Perea, Miguel Urioste, PHTS Working Group

Publikováno v: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-11 (2022)

Abstract Background The limited knowledge about the PTEN hamartoma tumor syndrome (PHTS) makes its diagnosis a challenging task. We aimed to define the clinical and genetic characteristics of this syndrome in the Spanish population and to identify ne

Externí odkaz: https://doaj.org/article/74028b0952a2495887a38ec95f063b00

Molecular characterization of chromophobe renal cell carcinoma reveals mTOR pathway alterations in patients with poor outcome

Autor: Luis J Leandro-García, Guillermo Velasco, Bruna Calsina, Georgia Anguera, Pablo Maroto, Rocío Letón, Maria José Santos, María Monteagudo, Ángel M Martínez-Montes, Eduardo Caleiras, Jesús García-Donas, Cristina Rodríguez-Antona, Cristina Montero-Conde, Alberto Cascón, Javier Lanillos, Mercedes Robledo, Juan María Roldan-Romero

Publikováno v: MODERN PATHOLOGY
r-IIB SANT PAU: Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Institut d’Investigació Biomèdica Sant Pau (IIB Sant Pau)
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname

Chromophobe renal cell carcinoma (chRCC) is a histologically and molecularly distinct class of rare renal tumor. TCGA studies revealed low mutational burden, with only TP53 and PTEN recurrently mutated, and discovered alterations in TERT promoter and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a50154d9d97b395a18bd54a21f25602
https://doi.org/10.1038/s41379-020-0607-z

Deubiquitinase USP9X loss Sensitizes Cancer Cells to mTOR Inhibitors through p62 Dysregulation

Autor: Juan M. Roldán-Romero, Maria Santos, Javier Lanillos, Pablo Maroto, Georgia Anguera, Bruna Calsina, Angel Martinez-Montes, María Monteagudo, Sara Mellid, Luis J. Leandro-García, Cristina Montero-Conde, Alberto Cascón, Giovanna Roncador, Javier Coloma, Mercedes Robledo, Cristina Rodriguez-Antona

BackgroundMutations in MTOR and TSC1/2 can only explain part of variability in mTOR inhibitor response. Here, we performed a comprehensive molecular characterization of tumors with high sensitivity to these drugs to uncover novel mechanisms of respon

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::63a5f86285da22ee16e0d1ddc0aabc55
https://doi.org/10.21203/rs.3.rs-923880/v1

Integrative multi-omics analysis identifies a prognostic miRNA signature and a targetable miR-21-3p/TSC2/mTOR axis in metastatic pheochromocytoma/paraganglioma

Autor: Judith Favier, Felix Beuschlein, Graeme Eisenhofer, Maria Currás-Freixes, Laurence Amar, Laura Remacha, Letizia Canu, Fabio L. Fernandes-Rosa, Anne-Paule Gimenez-Roqueplo, Ángel M Martínez-Montes, Fatima Al-Shahrour, Henri J L M Timmers, Cristina Montero-Conde, Bruna Calsina, Rafael Torres-Pérez, Rocío Letón, Elena Rapizzi, Jacques W.M. Lenders, Alfonso Cordero-Barreal, Julia Sastre-Marcos, Alexandre Bellucci, Maria José Santos, María Calatayud, Cristina Álvarez-Escolá, Javier Aller, Aguirre A. de Cubas, Esther Korpershoek, Lucía Inglada-Pérez, Veronika Mancikova, Nelly Burnichon, Cristina Rodríguez-Antona, Martin Fassnacht-Capeller, Massimo Mannelli, Alberto Cascón, Charlotte Lussey-Lepoutre, Javier Lanillos, Mercedes Robledo, Luis Jaime Castro-Vega, Osvaldo Graña, Cristina Lamas, Juan María Roldan-Romero

Publikováno v: Theranostics
Theranostics, 9, 17, pp. 4946-4958
Theranostics, 9(17), 4946-4958. Ivyspring International Publisher
Biblos-e Archivo. Repositorio Institucional de la UAM
instname
Repisalud
Instituto de Salud Carlos III (ISCIII)
Theranostics, 9, 4946-4958

Artículo escrito por un elevado número de autores, solo se referencian el que aparece en primer lugar y los autores pertenecientes a la UAM
Pheochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumors that present variable outco

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::65914c862c6f868cf8b1678d8fe9432d
https://hdl.handle.net/2066/208812