Hereditary Endocrine Cancer Group

Mercedes Robledo Group Leader
T +34 917328000 (Ext 3320)
mrobledo@cnio.es

Research Scientists

Alberto Cascón
Luis Javier Leandro

Graduate Students

Marta Coiduras
Javier de Nicolás
Carlos Valdivia

Technicians

Ester Arroba
Mariolga Berrizbeitia
Rocío Letón
Mario Mira
Milton Eduardo Salazar

Visiting Scientist

Cristina Rodríguez

Our Group is mainly interested in identifying genetic risk factors involved in endocrine tumour susceptibility. Through a comprehensive analysis of tumour genomic features, we have been able to propose diagnostic and prognostic markers to identify altered pathways that could be targeted with therapeutics, and to identify new major susceptibility genes.

We are also interested in defining markers associated with differences in anticancer drug response and toxicity. We are applying “omic” analyses to a large series of clinically well-characterised patients. The aim is to identify new therapeutic approaches to personalise cancer treatment. These efforts will collectively improve the diagnosis, prognosis, and treatment of patients.

Recent publications

Arenillas C, Celada L, Ruiz-Cantador J, Calsina B, Datta D, García-Galea E, Fasani R, Moreno-Cárdenas AB, Alba-Linares JJ, Miranda-Barrio B, Martínez-Montes ÁM, Alvarez-Escola C, Lecumberri B, González García A, K Flores S, Esquivel E, Ding Y, Peitzsch M, Robles-Guirado JÁ, Regojo Zapata RM, Pozo-Kreilinger JJ, Iglesias C, Dwight T, Muir CA, Oleaga A, Garrido-Lestache Rodríguez-Monte ME, Del Cerro MJ, Martínez-Bendayán I, Álvarez-González E, Cubiella T, Lourenço DM Jr, A Pereira MA, Burnichon N, Buffet A, Broberg C, Dickson PV, Fraga MF, Llorente Pendás JL, Rueda Soriano J, Buendía Fuentes F, Toledo SPA, Clifton-Bligh R, Dienstmann R, Villanueva J, Capdevila J, Gimenez-Roqueplo AP, Favier J, Nuciforo P, Young WF Jr, Bechmann N, Opotowsky AR, Vaidya A, Bancos I, Weghorn D, Robledo M, Casteràs A, Dos-Subirà L, Adameyko I, Chiara MD, Dahia PLM, Toledo RA. (2025). Convergent Genetic Adaptation in Human Tumors Developed Under Systemic Hypoxia and in Populations Living at High Altitudes. Cancer Discovery 15, 1037-1062. CNIO Publication.
Rodríguez-Moreno JF, de Velasco G, Álvarez-Fernández C, Collado R, Fernández R, Vázquez S, Virizuela JA, Gajate P, Font A, Lainez N, Sevillano-Fernández E, Graña-Castro O, Beltrán L, Madurga R, Rodríguez-Antona C, Berraondo P, Ruiz-Llorente S, García-Donas J. (2025). Treatment Efficacy and Molecular Dynamics of Neoadjuvant Durvalumab and Olaparib in Resectable Urothelial Bladder Cancer: The NEODURVARIB Trial. Clin Cancer Res 31, 1644-1656. CNIO Publication.
Fischer A, Remde H, Pamporaki C, Dischinger U, Bechmann N, Robledo M, Wang K, Vetter D, Oberholzer J, Morand GB, Mueller SA, Huber A, Fritsch R, Gruber S, Hantel C, Zitzmann K, Reincke M, Auernhammer CJ, Pacak K, Grossman AB, Beuschlein F, Nölting S. (2025). Long-Term Persistence of Glycemic Dysregulation in Patients With a History of Pheochromocytoma/Paraganglioma. J Clin Endocrinol Metab 110, e2966-e2976. CNIO Publication.
Husebye ES, Assié G, Krone N, Achermann JC, Altieri B, Amar L, Araujo-Castro M, Brown MJ, Casey RT, Claahsen-van der Grinten HL, Davies E, Deinum J, Flück CE, Kastelan D, Kroiss M, Mulatero P, Laakso S, Pearce SH, Reincke M, Reisch N, Robledo M, Ronchi CL, Vassiliadi DA, Wiegering V, Zennaro MC. (2025). EndoCompass Project: Research Roadmap for Adrenal and Cardiovascular Endocrinology. Eur J Endocrinol 193, i22-i22. CNIO Publication.
Martínez-Puente N, Ruz-Caracuel I, Leandro-García LJ, Pian-Arias H, Vega-Corral Z, Letón R, Radu R, Berrizbeitia M, Mellid S, Reglero C, Salazar-Hidalgo ME, Arroba E, Díaz-Talavera A, Marazuela M, Benito-Berlinches A, González-García I, Campos-Mena S, Lozano-Escario MD, Guadalix S, Calatayud M, Pérez-Campos A, Lahera M, Cascón A, Galofré JC, Currás-Freixes M, Caleiras EJ, Valderrabano P, Robledo M, Montero-Conde C. (2025). Expression of Homo sapiens (Hsa)-miR-139-5p as a Clinically Feasible Prognostic Marker for Differentiated Thyroid Cancer (DTC). Lab Invest 105, 104199. CNIO Publication.
Rodríguez-Lloveras H, Zafon C, Iglesias C, Marcos-Ruiz J, Gil J, Rueda-Pujol A, González L, Mayor R, Klein Hesselink EN, van Hemel BM, Carrato C, Perelló-Fabregat C, Hernández-Losa J, Somoza R, Pluvinet R, Sánchez-Herrero JF, Sumoy L, Seoane J, Riesco-Eizaguirre G, Montero-Conde C, Robledo M, Hernando J, Capdevila J, Reverter JL, Puig-Domingo M, Links TP, Jordà M. (2025). DNA Methylation Dynamics and Prognostic Implications in Metastatic Differentiated Thyroid Cancer. Thyroid 35, 494-507. CNIO Publication.
Sojat AS, Rance B, Neuraz A, Fassnacht M, Beuschlein F, Robledo M, Luconi M, Vassiliadi D, Stell A, Igaz P, Dugic B, Marina LV, Burgun A, Kastelan D, Assie G; European Network for the Study of Adrenal Tumors (ENSAT)/COST Action Harmonisation (CA 20122) consortium. (2025). How ready are endocrine scientists to share retrospective clinical data for research: a perspective from the European Network for the Study of Adrenal Tumors. Eur J Endocrinol 192, 491-509. CNIO Publication.
Wang K, Fischer A, Maccio U, Zitzmann K, Robledo M, Lauseker M, Bauer J, Bechmann N, Gahr S, Maurer J, Peischer L, Reul A, Nieß H, Zimmermann P, Ilmer M, Schilbach K, Knösel T, Kroiss M, Fassnacht M, Müller SA, Morand GB, Huber A, Vetter D, Lehmann K, Kulcsar Z, Mohr H, Pellegata NS, Hantel C, Reincke M, Beuschlein F, Pacak K, Grossman AB, Auernhammer CJ, Nölting S. (2025). Impact of sex hormones on pheochromocytomas, paragangliomas, and gastroenteropancreatic neuroendocrine tumors. Eur J Endocrinol 192, 46-60. CNIO Publication.
Mellid S, Caleiras E, Martínez-Montes ÁM, Arenas A, Jiménez S, Monteagudo M, Letón R, Radu R, Álvarez-Díaz R, Arroba E, Diaz-Talavera A, Martínez-Puente N, Álvarez-Escolá C, Pineda M, Balbín M, Al-Shahrour F, Rodriguez-Antona C, Montero-Conde C, Leandro-García LJ, Honrado E, Soria-Tristán M, Robledo M, Cascón A, (2025). Molecular profiling unveils genetic complexity and identifies potential new driver mechanisms in head and neck paragangliomas. Genes Dis 13, 101705. CNIO Publication.
Osorio L, Grazioso TP, de Velasco G, Etxaniz O, Pérez-Gracia JL, Pinto Á, Durán I, Grande E, Garcia PB, Lázaro M, Rodriguez L, Villalobos ML, García L, Cuellar A, Solís-Hernández MP, Pernaut C, Rodríguez-Moreno JF, Rodriguez-Antona C, García-Donas J. (2025). Retrospective study assessing the role of the androgen receptor in clear cell renal cell cancer patients treated with VEGFR inhibitors in monotherapy. Clin Transl Oncol 27, 2241-2255. CNIO Publication.
Taïeb D, Nölting S, Perrier ND, Fassnacht M, Carrasquillo JA, Grossman AB, Clifton-Bligh R, Wanna GB, Schwam ZG, Amar L, Bourdeau I, Casey RT, Crona J, Deal CL, Del Rivero J, Duh QY, Eisenhofer G, Fojo T, Ghayee HK, Gimenez-Roqueplo AP, Gill AJ, Hicks R, Imperiale A, Jha A, Kerstens MN, de Krijger RR, Lacroix A, Lazurova I, Lin FI, Lussey-Lepoutre C, Maher ER, Mete O, Naruse M, Nilubol N, Robledo M, Sebag F, Shah NS, Tanabe A, Thompson GB, Timmers HJLM, Widimsky J, Young WJ Jr, Meuter L, Lenders JWM, Pacak K (2024). Management of phaeochromocytoma and paraganglioma in patients with germline SDHB pathogenic variants: an international expert Consensus statement.. Nat. Rev. Endocrinol. 20, 168-184. CNIO Publication.
Casey RT, Hendriks E, Deal C, Waguespack SG, Wiegering V, Redlich A, Akker S, Prasad R, Fassnacht M, Clifton-Bligh R, Amar L, Bornstein S, Canu L, Charmandari E, Chrisoulidou A, Freixes MC, de Krijger R, de Sanctis L, Fojo A, Ghia AJ, Huebner A, Kosmoliaptsis V, Kuhlen M, Raffaelli M, Lussey-Lepoutre C, Marks SD, Nilubol N, Parasiliti-Caprino M, Timmers HHJLM, Zietlow AL, Robledo M, Gimenez-Roqueplo AP, Grossman AB, Taïeb D, Maher ER, Lenders JWM, Eisenhofer G, Jimenez C, Pacak K, Pamporaki C. (2024). International consensus statement on the diagnosis and management of phaeochromocytoma and paraganglioma in children and adolescents. Nat. Rev. Endocrinol. 20, 729-748. CNIO Publication.
Uher O, Hadrava Vanova K, Taieb D, Calsina B, Robledo M, Clifton-Bligh R, Pacak K. (2024). The Immune Landscape of Pheochromocytoma and Paraganglioma: Current Advances and Perspectives. Endocr Rev 45, 521-552. CNIO Publication.
Nelson BH, Hamilton PT, Phung MT, Milne K, Harris B, Thornton S, Stevens DL, Kalaria S, Singh K, Laumont CM, Moss E, Alimujiang A, Meagher NS, Bolithon A, Fereday S, Kennedy CJ, Hendley J, Ariyaratne D, Alsop K, Traficante N, Goode EL, Karnezis AN, Shen H, Richardson J, McKinnon Deurloo C, Chase A, Grout B, Doherty JA, Harris HR, Cushing-Haugen KL, Anglesio MS, Heinze K, Huntsman D, Talhouk A, Hanley GE, Alsop J, Jimenez-Linan M, Pharoah PD, Boros J, Brand AH, Harnett PR, Sharma R, Hecht JL, Sasamoto N, Terry KL, Karlan BY, Lester J, Carney ME, Goodman MT, Hernandez BY, Wilkens LR, Behrens S, Turzanski Fortner R, Fasching PA, Bisinotto C, Candido Dos Reis FJ, Ghatage P, Köbel M, Elishaev E, Modugno F, Cook LS, Le ND, Gentry-Maharaj A, Menon U, García MJ, Rodriguez-Antona C, Farrington KM, Kelemen LE, Kommoss S, Staebler A, Garsed DW, Brenton JD, Piskorz AM, Bowtell DD, DeFazio A, Ramus SJ, Pike MC, Pearce CL. (2024). Immunological and molecular features of the tumor microenvironment of long-term survivors of ovarian cancer. J Clin Invest (in press). CNIO Publication.
Cascón A, Robledo M (2024). Clinical and molecular markers guide the genetics of pheochromocytoma and paraganglioma. BBA-Rev Cancer 1879, 189141. CNIO Publication.
Dareng EO, Coetzee SG, Tyrer JP, Peng PC, Rosenow W, Chen S, Davis BD, Dezem FS, Seo JH, Nameki R, Reyes AL, Aben KKH, Anton-Culver H, Antonenkova NN, Aravantinos G, Bandera EV, Beane Freeman LE, Beckmann MW, Beeghly-Fadiel A, Benitez J, Bernardini MQ, Bjorge L, Black A, Bogdanova NV, Bolton KL, Brenton JD, Budzilowska A, Butzow R, Cai H, Campbell I, Cannioto R, Chang-Claude J, Chanock SJ, Chen K, Chenevix-Trench G; AOCS Group; Chiew YE, Cook LS, DeFazio A, Dennis J, Doherty JA, Dörk T, du Bois A, Dürst M, Eccles DM, Ene G, Fasching PA, Flanagan JM, Fortner RT, Fostira F, Gentry-Maharaj A, Giles GG, Goodman MT, Gronwald J, Haiman CA, Håkansson N, Heitz F, Hildebrandt MAT, Høgdall E, Høgdall CK, Huang RY, Jensen A, Jones ME, Kang D, Karlan BY, Karnezis AN, Kelemen LE, Kennedy CJ, Khusnutdinova EK, Kiemeney LA, Kjaer SK, Kupryjanczyk J, Labrie M, Lambrechts D, Larson MC, Le ND, Lester J, Li L, Lubiński J, Lush M, Marks JR, Matsuo K, May T, McLaughlin JR, McNeish IA, Menon U, Missmer S, Modugno F, Moffitt M, Monteiro AN, Moysich KB, Narod SA, Nguyen-Dumont T, Odunsi K, Olsson H, Onland-Moret NC, Park SK, Pejovic T, Permuth JB, Piskorz A, Prokofyeva D, Riggan MJ, Risch HA, Rodríguez-Antona C, Rossing MA, Sandler DP, Setiawan VW, Shan K, Song H, Southey MC, Steed H, Sutphen R, Swerdlow AJ, Teo SH, Terry KL, Thompson PJ, Vestrheim Thomsen LC, Titus L, Trabert B, Travis R, Tworoger SS, Valen E, Van Nieuwenhuysen E, Edwards DV, Vierkant RA, Webb PM; OPAL Study Group; Weinberg CR, Weise RM, Wentzensen N, White E, Winham SJ, Wolk A, Woo YL, Wu AH, Yan L, Yannoukakos D, Zeinomar N, Zheng W, Ziogas A, Berchuck A, Goode EL, Huntsman DG, Pearce CL, Ramus SJ, Sellers TA; Ovarian Cancer Association Consortium (OCAC); Freedman ML, Lawrenson K, Schildkraut JM, Hazelett D, Plummer JT, Kar S, Jones MR, Pharoah PDP, Gayther SA (2024). Integrative multi-omics analyses to identify the genetic and functional mechanisms underlying ovarian cancer risk regions.. Am J Hum Genet 111, 1061-1083. CNIO Publication.
Kang EY, Weir A, Meagher NS, Farrington K, Nelson GS, Ghatage P, Lee CH, Riggan MJ, Bolithon A, Popovic G, Leung B, Tang K, Lambie N, Millstein J, Alsop J, Anglesio MS, Ataseven B, Barlow E, Beckmann MW, Berger J, Bisinotto C, Bösmüller H, Boros J, Brand AH, Brooks-Wilson A, Brucker SY, Carney ME, Casablanca Y, Cazorla-Jiménez A, Cohen PA, Conrads TP, Cook LS, Coulson P, Courtney-Brooks M, Cramer DW, Crowe P, Cunningham JM, Cybulski C, Darcy KM, El-Bahrawy MA, Elishaev E, Erber R, Farrell R, Fereday S, Fischer A, García MJ, Gayther SA, Gentry-Maharaj A, Gilks CB; AOCS Group; Grube M, Harnett PR, Harrington SP, Harter P, Hartmann A, Hecht JL, Heikaus S, Hein A, Heitz F, Hendley J, Hernandez BY, Polo SH, Heublein S, Hirasawa A, Høgdall E, Høgdall CK, Horlings HM, Huntsman DG, Huzarski T, Jewell A, Jimenez-Linan M, Jones ME, Kaufmann SH, Kennedy CJ, Khabele D, Kommoss FKF, Kruitwagen RFPM, Lambrechts D, Le ND, Lener M, Lester J, Leung Y, Linder A, Loverix L, Lubiński J, Madan R, Maxwell GL, Modugno F, Neuhausen SL, Olawaiye A, Olbrecht S, Orsulic S, Palacios J, Pearce CL, Pike MC, Quinn CM, Mohan GR, Rodríguez-Antona C, Ruebner M, Ryan A, Salfinger SG, Sasamoto N, Schildkraut JM (2024). CCNE1 and survival of patients with tubo-ovarian high-grade serous carcinoma: an ovarian tumor tissue analysis consortium study.. Cancer 129, 697-713. CNIO Publication.
Monteagudo M, Calsina B, Salazar-Hidalgo ME, Martínez-Montes ÁM, Piñeiro-Yáñez E, Caleiras E, Martín MC, Rodríguez-Perales S, Letón R, Gil E, Buffet A, Burnichon N, Fernández-Sanromán Á, Díaz-Talavera A, Mellid S, Arroba E, Reglero C, Martínez-Puente N, Roncador G, Del Olmo MI, Corrales PJP, Oliveira CL, Álvarez-Escolá C, Gutiérrez MC, López-Fernández A, García NP, Regojo RM, Díaz LR, Laorden NR, Guadarrama OS, Bechmann N, Beuschlein F, Canu L, Eisenhofer G, Fassnacht M, Nölting S, Quinkler M, Rapizzi E, Remde H, Timmers HJ, Favier J, Gimenez-Roqueplo AP, Rodriguez-Antona C, Currás-Freixes M, Al-Shahrour F, Cascón A, Leandro-García LJ, Montero-Conde C, Robledo M. (2024). MAML3-fusions modulate vascular and immune tumour microenvironment and confer high metastatic risk in pheochromocytoma and paraganglioma. Best Pract Res Cl En 38, 101931. CNIO Publication. Open Access
Sampedro-Nuñez M, Herrera-Martínez AD, Ibáñez-Costa A, Rivero-Cortés E, Venegas E, Robledo M, Martínez-Hernández R, García-Martínez A, Gil J, Jordà M, López-Fernández J, Gavilán I, Maraver S, Marqués-Pamies M, Cámara R, Fajardo-Montañana C, Valassi E, Dios E, Aulinas A, Biagetti B, Álvarez Escola C, Araujo-Castro M, Blanco C, Paz M, Villar-Taibo R, Álvarez CV, Gaztambide S, Webb SM, Castaño L, Bernabéu I, Picó A, Gálvez MÁ, Soto-Moreno A, Puig-Domingo M, Castaño JP, Marazuela M, Luque RM; REMAH investigators. (2024). Integrative clinical, hormonal, and molecular data associate with invasiveness in acromegaly: REMAH study. Eur J Endocrinol 109, 421-433. CNIO Publication.
Ramachandran D, Tyrer JP, Kommoss S, DeFazio A, Riggan MJ; AOCS Group; Webb PM, Fasching PA, Lambrechts D, García MJ, Rodríguez-Antona C, Goodman MT, Modugno F, Moysich KB, Karlan BY, Lester J, Kjaer SK, Jensen A, Høgdall E, Goode EL, Cliby WA, Kumar A, Wang C, Cunningham JM, Winham SJ, Monteiro AN, Schildkraut JM, Cramer DW, Terry KL, Titus L, Bjorge L, Thomsen LCV; OPAL Study Group; Pejovic T, Høgdall CK, McNeish IA, May T, Huntsman DG, Pfisterer J, Canzler U, Park-Simon TW, Schröder W, Belau A, Hanker L, Harter P, Sehouli J, Kimmig R, de Gregorio N, Schmalfeldt B, Baumann K, Hilpert F, Burges A, Winterhoff B, Schürmann P, Speith LM, Hillemanns P, Berchuck A, Johnatty SE, Ramus SJ, Chenevix-Trench G, Pharoah PDP, Dörk T, Heitz F. (2024). Genome-wide association analyses of ovarian cancer patients undergoing primary debulking surgery identify candidate genes for residual disease. NPJ GENOM MED 5, 19. CNIO Publication.
Richter S, Pacak K, Kunst H, Januszewicz A, Nölting S, Remde H, Robledo M, Eisenhofer G, Timmers HJ, Pamporaki C. (2024). Management and follow-up strategies for patients with head and neck paraganglioma. Eur J Endocrinol 191, 389-398. CNIO Publication.
Wang K, Schober L, Fischer A, Bechmann N, Maurer J, Peischer L, Reul A, Hantel C, Reincke M, Beuschlein F, Robledo M, Mohr H, Pellegata NS, Schilbach K, Knösel T, Ilmer M, Angele M, Kroiss M, Maccio U, Broglie-Däppen M, Vetter D, Lehmann K, Pacak K, Grossman AB, Auernhammer CJ, Zitzmann K, Nölting S. (2024). Opposing effects of cannabidiol in patient-derived neuroendocrine tumor, pheochromocytoma/paraganglioma primary cultures. J Clin Endocrinol Metab 12, dgae241. CNIO Publication.
Jiang J, Pang Y, Luo R, Wei Y, Zhang J, Li M, Xu Y, Teng X, Wu H, Guan H, Wu X, Yan C, Zhong D, Deng W, Xu N, Wen Y, Feng Y, Yan B, Wang L, Jiang Y, Ning J, Xu X, Soria MJ, Robledo M, Pacak K, Liu Y, Liu L. (2024). Genetics of urinary bladder paragangliomas: a multi-center study of a Chinese cohort. J Endocrinol Invest (in press). CNIO Publication.
Moreno-Cabrera JM, Feliubadaló L, Pineda M, Prada-Dacasa P, Ramos-Muntada M, Del Valle J, Brunet J, Gel B, Currás-Freixes M, Calsina B, Salazar-Hidalgo ME, Rodríguez-Balada M, Roig B, Fernández-Castillejo S, Durán Domínguez M, Arranz Ledo M, Infante Sanz M, Castillejo A, Dámaso E, Soto JL, de Miguel M, Hidalgo Calero B, Sánchez-Zapardiel JM, Ramon Y Cajal T, Lasa A, Gisbert-Beamud A, López-Novo A, Ruiz-Ponte C, Potrony M, Álvarez-Mora MI, Osorio A, Lorda-Sánchez I, Robledo M, Cascón A, Ruiz A, Spataro N, Hernan I, Borràs E, Moles-Fernández A, Earl J, Cadiñanos J, Sánchez-Heras AB, Bigas A, Capellá G, Lázaro C. (2024). SpadaHC: a database to improve the classification of variants in hereditary cancer genes in the Spanish population. DATABASE : THE JOURNAL OF BIOLOGICAL DATABASES AND CURATION , baae055. CNIO Publication.
Pang Y, Zhang J, Jiang J, Pamporaki C, Li M, Bechmann N, Meuter L, Wei Y, Huang H, Huang S, Yu X, Robledo M, Soria MJ, Zhong D, Xu S, Timmers HJLM, Langenhuijsen JF, Chen X, Deng W, Deutschbein T, Remde H, Wang L, Yao H, Yan B, Berends AMA, Kerstens MN, Jiang Y, Crona J, Xu N, Cai H, Wen Y, Wang A, Wu J, Zhang Z, Ning J, Cheng F, Chen X, Wang J, Xie B, Chen D, Liu Y, Liu L, Pacak K, Eisenhofer G, Lenders JWM (2024). Diagnosis and management of urinary bladder paragangliomas: A Sino-American-European retrospective observational study. Clin Endocrinol 101, 234-242. CNIO Publication.
Sánchez-Heras AB, Dámaso E, Castillejo A, Robledo M, Teulé A, Lázaro C, Sánchez-Martínez R, Zúñiga Á, López-Fernández A, Balmaña J, Robles L, Ramon Y Cajal T, Castillejo MI, Ibañez RP, Sevila CM, Sánchez-Mira A, Escandell I, Gómez L, Berbel P, Soto JL. (2024). Genetic and clinical characterization of a novel FH founder mutation in families with hereditary leiomyomatosis and renal cell cancer syndrome. Orphanet J Rare Dis 19, 26. CNIO Publication.
Gebhardt M, Kunath C, Fröbel D, Funk AM, Peitzsch M, Nölting S, Deutschbein T, Januszewicz A, Timmers HJLM, Robledo M, Jahn A, Constantinescu G, Eisenhofer G, Pamporaki C, Richter S. (2024). Identification of Succinate Dehydrogenase Gene Variant Carriers by Blood Biomarkers. J. Endocr. Soc. 8, bvae142. CNIO Publication.
Mahmood M, Liu EM, Shergold AL, Tolla E, Tait-Mulder J, Huerta-Uribe A, Shokry E, Young AL, Lilla S, Kim M, Park T, Boscenco S, Manchon JL, Rodríguez-Antona C, Walters RC, Springett RJ, Blaza JN, Mitchell L, Blyth K, Zanivan S, Sumpton D, Roberts EW, Reznik E, Gammage PA. (2024). Mitochondrial DNA mutations drive aerobic glycolysis to enhance checkpoint blockade response in melanoma. Nat Cancer 5, 659-672. CNIO Publication.
Pamporaki C, Berends AMA, Filippatos A, Prodanov T, Meuter L, Prejbisz A, Beuschlein F, Fassnacht M, Timmers HJLM, Nölting S, Abhyankar K, Constantinescu G, Kunath C, de Haas RJ, Wang K, Remde H, Bornstein SR, Januszewicz A, Robledo M, Lenders JWM, Kerstens MN, Pacak K, Eisenhofer G. (2024). Prediction of metastatic pheochromocytoma and paraganglioma: a machine learning modelling study using data from a cross-sectional cohort. Lancet Digit Health (in press). CNIO Publication.
Calsina B, Piñeiro-Yáñez E, Martínez-Montes ÁM, Caleiras E, Fernández-Sanromán Á, Monteagudo M, Torres-Pérez R, Fustero-Torre C, Pulgarín-Alfaro M, Gil E, Letón R, Jiménez S, García-Martín S, Martin MC, Roldán-Romero JM, Lanillos J, Mellid S, Santos M, Díaz-Talavera A, Rubio Á, González P, Hernando B, Bechmann N, Dona M, Calatayud M, Guadalix S, Álvarez-Escolá C, Regojo RM, Aller J, Del Olmo-Garcia MI, López-Fernández A, Fliedner SMJ, Rapizzi E, Fassnacht M, Beuschlein F, Quinkler M, Toledo RA, Mannelli M, Timmers HJ, Eisenhofer G, Rodríguez-Perales S, Domínguez O, Macintyre G, Currás-Freixes M, Rodríguez-Antona C, Cascón A, Leandro-García LJ, Montero-Conde C, Roncador G, García-García JF, Pacak K, Al-Shahrour F, Robledo M. (2023). Genomic and immune landscape Of metastatic pheochromocytoma and paraganglioma. Nat Commun 14, 1122. CNIO Publication. Open Access
Piroli GG, Manuel AM, McCain RS, Smith HH, Ozohanics O, Mellid S, Cox JH, Cotham WE, Walla MD, Cascón A, Ambrus A, Frizzell N. (2023). Defective function of α-ketoglutarate dehydrogenase exacerbates mitochondrial ATP deficits during complex I deficiency. Redox Biol 67, . CNIO Publication.
Martin-Broto J, Valverde C, Hindi N, Vincenzi B, Martinez-Trufero J, Grignani G, Italiano A, Lavernia J, Vallejo A, Tos PD, Le Loarer F, Gonzalez-Campora R, Ramos R, Hernández-Jover D, Gutierrez A, Serrano C, Monteagudo M, Letón R, Robledo M, Moura DS, Martin-Ruiz M, López-Guerrero JA, Cruz J, Fernandez-Serra A, Blay JY, Fumagalli E, Martinez-Marin V. (2023). REGISTRI: Regorafenib in first-line of KIT/PDGFRA wild type metastatic GIST: a collaborative Spanish (GEIS), Italian (ISG) and French Sarcoma Group (FSG) phase II trial. Mol Can 22, 127. CNIO Publication.
Roldán-Romero JM, Valdivia C, Santos M, Lanillos J, Maroto P, Anguera G, Calsina B, Martinez-Montes A, Monteagudo M, Mellid S, Leandro-García LJ, Montero-Conde C, Cascón A, Roncador G, Coloma J, Robledo M, Rodriguez-Antona C. (2023). Deubiquitinase USP9X loss sensitizes renal cancer cells to mTOR inhibition. Int J Cancer 153, 1300-1312. CNIO Publication.
Fischer A, Kloos S, Remde H, Dischinger U, Pamporaki C, Timmers HJLM, Robledo M, Fliedner SMJ, Wang K, Maurer J, Reul A, Bechmann N, Hantel C, Mohr H, Pellegata NS, Bornstein SR, Kroiss M, Auernhammer CJ, Reincke M, Pacak K, Grossman AB, Beuschlein F, Nölting S. (2023). Responses to systemic therapy in metastatic pheochromocytoma/paraganglioma – A retrospective multi-center cohort study. Eur J Endocrinol 189, 546-565. CNIO Publication.
Fischer A, Maccio U, Wang K, Friemel J, Broglie Daeppen MA, Vetter D, Lehmann K, Reul A, Robledo M, Hantel C, Bechmann N, Pacak K, Zitzmann K, Auernhammer CJ, Grossman AB, Beuschlein F, Nölting S. (2023). PD-L1 and HIF-2α upregulation in head and neck paragangliomas after embolization.. Cancers 15, 5199. CNIO Publication. Open Access
Cascón A, Calsina B, Monteagudo M, Mellid S, Díaz-Talavera A, Currás-Freixes M, Robledo M. (2023). Genetic bases of pheochromocytoma and paraganglioma. J Mol Endocrinol 70, e220167. CNIO Publication.
Fischer A, Kloos S, Maccio U, Friemel J, Remde H, Fassnacht M, Pamporaki C, Eisenhofer G, Timmers HJLM, Robledo M, Fliedner SMJ, Wang K, Maurer J, Reul A, Zitzmann K, Bechmann N, Žygiene G, Richter S, Hantel C, Vetter D, Lehmann K, Mohr H, Pellegata NS, Ullrich M, Pietzsch J, Ziegler CG, Bornstein SR, Kroiss M, Reincke M, Pacak K, Grossman AB, Beuschlein F, Nölting S. (2023). Metastatic pheochromocytoma and paraganglioma: Somatostatin receptor 2 expression, genetics and therapeutic responses. J Clin Endocrinol Metab (in press). CNIO Publication.
Gimenez-Roqueplo AP, Robledo M, Dahia PLM. (2023). Update on the genetics of paragangliomas. Endocr-Relat Cancer 30, e220373. CNIO Publication.
Li M, Prodanov T, Meuter L, Kerstens MN, Bechmann N, Prejbisz A, Remde H, Timmers HJLM, Nölting S, Talvacchio S, Berends AMA, Fliedner S, Robledo M, Lenders JWM, Pacak K, Eisenhofer G, Pamporaki C. (2023). Recurrent disease in patients with sporadic pheochromocytoma and paraganglioma.. J Clin Endocrinol Metab 108, 397-404. CNIO Publication.
Li M, Richter S, Mohr H, Drukewitz S, Poser I, Stanke D, Calsina B, Martinez-Montes AM, Quinkler M, Timmers HJLM, Nölting S, Beuschlein F, Remde H, Opocher G, Rapizzi E, Pacak K, Pamporaki C, Robledo M, Liu L, Jiang J, Bornstein SR, Eisenhofer G, Fliedner SMJ, Bechmann N. (2023). Regulation of epinephrine biosynthesis in HRAS-mutant paragangliomas.. Endocr-Relat Cancer 30, e230230. CNIO Publication.
Karakaya S, Gunnesson L, Elias E, Martos-Salvo P, Robledo M, Nilsson O, Wängberg B, Abel F, Påhlman S, Muth A, Mohlin S. (2023). Cytoplasmic HIF-2α as tissue biomarker to identify metastatic sympathetic paraganglioma. Sci Rep 13, 11588. CNIO Publication.
Leandro-García LJ, Landa I (2023). Mechanistic Insights of Thyroid Cancer Progression. Endocrinology 164, bqad118. CNIO Publication.
Mellid S, Gil E, Letón R, Caleiras E, Honrado E, Richter S, Palacios N, Lahera M, Galofré JC, López-Fernández A, Calatayud M, Herrera-Martínez AD, Galvez MA, Matias-Guiu X, Balbín M, Korpershoek E, Lim ES, Maletta F, Lider S, Fliedner SMJ, Bechmann N, Eisenhofer G, Canu L, Rapizzi E, Bancos I, Robledo M, Cascón A. (2023). Co-occurrence of mutations in NF1 and other susceptibility genes in pheochromocytoma and paraganglioma. Front Endocrinol 13, 1070074. CNIO Publication. Open Access
Santos M, Lanillos J, Caleiras E, Valdivia C, Roldan-Romero JM, Laínez N, Puente J, Beuselinck B, Oudard S, Zucman-Rossi J, Navarro P, Robledo M, Castellano D, de Velasco G, García-Donas J, Rodriguez-Antona C. (2023). PBRM1 and KDM5C cooperate to define high-angiogenesis tumors and increased antiangiogenic response in renal cancer. Am J Cancer Res 13, 2116-2125. CNIO Publication. Open Access
Mellid S, García F, Leandro-García LJ, Díaz-Talavera A, Martínez-Montes ÁM, Gil E, Calsina B, Monteagudo M, Letón R, Roldán-Romero JM, Santos M, Lanillos J, Valdivia C, Martínez-Puente N, de Nicolás-Hernández J, Jiménez S, Pérez-Martínez M, Honrado E, Coloma J, Cerezo A, Santiveri CM, Esteller M, Campos-Olivas R, Caleiras E, Montero-Conde C, Rodríguez-Antona C, Muñoz J, Robledo M, Cascón A. (2023). DLST mutations in pheochromocytoma and paraganglioma cause proteome hyposuccinylation and metabolic remodeling. Cancer Commun 43, 838-843. CNIO Publication. Open Access
Bechmann N, Calsina B, Richter S, Pietzsch J. (2022). Therapeutic Potential of Nitric Oxide-Releasing Selective Estrogen Receptor Modulators in Malignant Melanoma. J Invest Dermatol (in press). CNIO Publication.
Montero-Conde C, Leandro-García LJ, Martínez-Montes ÁM, Martínez P, Moya FJ, Letón R, Gil E, Martínez-Puente N, Guadalix S, Currás-Freixes M, García-Tobar L, Zafon C, Jordà M, Riesco-Eizaguirre G, González-García P, Monteagudo M, Torres-Pérez R, Mancikova V, Ruiz-Llorente S, Pérez-Martínez M, Pita G, Galofré JC, Gonzalez-Neira A, Cascón A, Rodríguez-Antona C, Megías D, Blasco MA, Caleiras E, Rodríguez-Perales S, Robledo M (2022). Comprehensive molecular analysis of immortalization hallmarks in thyroid cancer reveals new prognostic markers. Clin Transl Med 12, e1001. CNIO Publication. Open Access
McDermott JH, Wolf J, Hoshitsuki K, Huddart R, Caudle KE, Whirl-Carrillo M, Steyger PS, Smith RJH, Cody N, Rodriguez-Antona C, Klein TE, Newman WG (2022). Clinical Pharmacogenetics Implementation Consortium Guideline for the Use of Aminoglycosides Based on MT-RNR1 Genotype. Clin Pharmacol Ther 111, 366-372. CNIO Publication.
Rodriguez-Antona C, Savieo JL, Lauschke VM, Sangkuhl K, Drögemöller BI, Wang D, van Schaik RHN, Gilep AA, Peter AP, Boone EC, Ramey BE, Klein TE, Whirl-Carrillo M, Pratt VM, Gaedigk A (2022). PharmVar GeneFocus: CYP3A5. Clin Pharmacol Ther (in press). CNIO Publication.
Jankovic Miljus J, Guillén-Sacoto MA, Makiadi-Alvarado J, Wert-Lamas L, Ramirez-Moya J, Robledo M, Santisteban P, Riesco-Eizaguirre G (2022). Circulating MicroRNA Profiles as Potential Biomarkers for differentiated thyroid cancer recurrence. J Clin Endocrinol Metab 107, 1280-1293. CNIO Publication.
Lanillos J, Carcajona M, Maietta P, Alvarez S, Rodriguez-Antona C (2022). Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data. NPJ GENOM MED 7, 12. CNIO Publication.
Richter S, Qiu B, Ghering M, Kunath C, Constantinescu G, Luths C, Pamporaki C, Bechmann N, Meuter L, Kwapiszewska A, Deutschbein T, Nölting S, Peitzsch M, Robledo M, Prejbisz A, Pacak K, Gudziol V, Timmers HJ, Eisenhofer G. (2022). Head/neck paragangliomas: focus on tumor location, mutational status and plasma methoxytyramine. Endocr-Relat Cancer 29, 213-224. CNIO Publication.
Benito-Sánchez B, Barroso A, Fernández V, Mercadillo F, Núñez-Torres R, Pita G, Pombo L, Morales-Chamorro R, Cano-Cano JM, Urioste M, González-Neira A, Osorio A. (2022). Apparent regional differences in the spectrum of BARD1 pathogenic variants in Spanish population and importance of copy number variants. Sci Rep 12, 8547. CNIO Publication.
Bliziotis NG, Kluijtmans LAJ, Soto S, Tinnevelt GH, Langton K, Robledo M, Pamporaki C, Engelke UFH, Erlic Z, Engel J, Deutschbein T, Nölting S, Prejbisz A, Richter S, Prehn C, Adamski J, Januszewicz A, Reincke M, Fassnacht M, Eisenhofer G, Beuschlein F, Kroiss M, Wevers RA, Jansen JJ, Deinum J, Timmers HJLM. (2022). Pre- versus post-operative untargeted plasma nuclear magnetic resonance spectroscopy metabolomics of pheochromocytoma and paraganglioma. Endocrine 75, 254-265. CNIO Publication.
Pena-Couso L, Ercibengoa M, Mercadillo F, Gómez-Sánchez D, Inglada-Pérez L, Santos M, Lanillos J, Gutiérrez-Abad D, Hernández A, Carbonell P, Letón R, Robledo M, Rodríguez-Antona C, Perea J, Urioste M; PHTS Working Group. (2022). Considerations on diagnosis and surveillance measures of PTEN hamartoma tumor syndrome: clinical and genetic study in a series of Spanish patients. Orphanet J Rare Dis 17, 85. CNIO Publication.
Díaz-Talavera A, Montero-Conde C, Leandro-García LJ, Robledo M. (2022). PrimPol: A Breakthrough among DNA Replication Enzymes and a Potential New Target for Cancer Therapy. Biomolecules 12, 248. CNIO Publication. Open Access
Amar L, Pacak K, Steichen O, Akker SA, Aylwin SJB, Baudin E, Buffet A, Burnichon N, Clifton-Bligh RJ, Dahia PLM, Fassnacht M, Grossman AB, Herman P, Hicks RJ, Januszewicz A, Jimenez C, Kunst HPM, Lewis D, Mannelli M, Naruse M, Robledo M, Taïeb D, Taylor DR, Timmers HJLM, Treglia G, Tufton N, Young WF, Lenders JWM, Gimenez-Roqueplo AP, Lussey-Lepoutre C (2021). International consensus on initial screening and follow-up of asymptomatic SDHx mutation carriers. Nat. Rev. Endocrinol. 17, 435-444. CNIO Publication.
Santos M, Lanillos J, Roldan-Romero JM, Caleiras E, Montero-Conde C, Cascón A, Climent MA, Anguera G, Hernando S, Laínez N, Robledo M, Robles L, de Velasco G, García-Donas J, Rodriguez-Antona C (2021). Prevalence of pathogenic germline variants in patients with metastatic renal cell carcinoma. Genet Med 23, 698-704. CNIO Publication. Open Access
Ben Aim L, Maher ER, Cascon A, Barlier A, Giraud S, Ercolino T, Pigny P, Clifton-Bligh RJ, Mirebeau-Prunier D, Mohamed A, Favier J, Gimenez-Roqueplo AP, Schiavi F, Toledo RA, Dahia PL, Robledo M, Bayley JP, Burnichon N (2021). International initiative for a curated SDHB variant database improving the diagnosis of hereditary paraganglioma and pheochromocytoma. J Med Genet (in press). CNIO Publication. Open Access
Esteban E, Exposito F, Crespo G, Lambea J, Pinto A, Puente J, Arranz JA, Redrado M, Rodriguez-Antona C, de Andrea C, Lopez-Brea M, Redin E, Rodriguez A, Serrano D, Garcia J, Grande E, Castellano D, Calvo A (2021). Circulating levels of the interferon-?-regulated chemokines CXCL10/CXCL11, IL-6 and HGF predict outcome in metastatic renal cell carcinoma patients treated with antiangiogenic therapy. Cancers 13, 2849. CNIO Publication.
Kinget L, Roussel E, Lambrechts D, Boeckx B, Vanginderhuysen L, Albersen M, Rodríguez-Antona C, Graña-Castro O, Inglada-Pérez L, Verbiest A, Zucman-Rossi J, Couchy G, Caruso S, Laenen A, Baldewijns M, Beuselinck (2021). MicroRNAs possibly involved in the development of bone metastasis in clear-cell renal cell carcinoma.. Cancers 13, 1554. CNIO Publication.
Kinget L, Roussel E, Verbiest A, Albersen M, Rodríguez-Antona C, Graña-Castro O, Inglada-Pérez L, Zucman-Rossi J, Couchy G, Job S, de Reyniès A, Laenen A, Baldewijns M, Beuselinck B (2021). MicroRNAs targeting HIF-2?, VEGFR1 and/or VEGFR2 as potential predictive biomarkers for VEGFR tyrosine kinase and HIF-2? inhibitors in metastatic clear-cell renal cell carcinoma. Cancers 13, 3099. CNIO Publication.
Monteagudo M, Martínez P, Leandro-García LJ, Martínez-Montes ÁM, Calsina B, Pulgarín-Alfaro M, Díaz-Talavera A, Mellid S, Letón R, Gil E, Pérez-Martínez M, Megías D, Torres-Ruiz R, Rodriguez-Perales S, González P, Caleiras E, Jiménez-Villa S, Roncador G, Álvarez-Escolá C, Regojo RM, Calatayud M, Guadalix S, Currás-Freixes M, Rapizzi E, Canu L, Nölting S, Remde H, Fassnacht M, Bechmann N, Eisenhofer G, Mannelli M, Beuschlein F, Quinkler M, Rodríguez-Antona C, Cascón A, Blasco MA, Montero-Conde C, Robledo M (2021). Analysis of Telomere Maintenance Related Genes Reveals NOP10 as a New Metastatic-Risk Marker in Pheochromocytoma/Paraganglioma. Cancers 13, 4758. CNIO Publication. Open Access
Murakami M, Sun N, Greunke C, Feuchtinger A, Kircher S, Deutschbein T, Papathomas T, Bechmann N, Wallace PW, Peitzsch M, Korpershoek E, Friemel J, Gimenez Roqueplo AP, Robledo M, Timmers HJ, Canu L, Weber A, de Krijger RR, Fassnacht M, Knösel T, Kirchner T, Reincke M, Walch AK, Kroiss M, Beuschlein F (2021). Mass Spectrometry Imaging Identifies Metabolic Patterns Associated with Malignant Potential in Pheochromocytoma and Paraganglioma. Eur J Endocrinol 185, 179-191. CNIO Publication.
Grande E, Rodriguez-Antona C, López C, Alonso-Gordoa T, Benavent M, Capdevila J, Teulé A, Custodio A, Sevilla I, Hernando J, Gajate P, Molina-Cerrillo J, Díez JJ, Santos M, Lanillos J, García-Carbonero R (2021). Sunitinib and Evofosfamide (TH-302) in systemic treatment-naïve patients with grade 1/2 metastatic pancreatic neuroendocrine tumors: the GETNE-1408 trial.. Oncologist 26, 941-949. CNIO Publication.
März J, Kurlbaum M, Roche-Lancaster O, Deutschbein T, Peitzsch M, Prehn C, Weismann D, Robledo M, Adamski J, Fassnacht M, Kunz M, Kroiss M (2021). Plasma Metabolome Profiling for the Diagnosis of Catecholamine Producing Tumors. Front Endocrinol 12, 722656. CNIO Publication.
Garcia-Carbonero R, Matute Teresa F, Mercader-Cidoncha E, Mitjavila-Casanovas M, Robledo M, Tena I, Alvarez-Escola C, Arístegui M, Bella-Cueto MR, Ferrer-Albiach C, Hanzu FA (2021). Multidisciplinary practice guidelines for the diagnosis, genetic counseling and treatment of pheochromocytomas and paragangliomas. Clin Transl Oncol 23, 1995-2019. CNIO Publication. Open Access
Villabona C, Oriola J, Serrano T, Guerrero-Pérez F, Valdés N, Chiara M, Robledo M. (2021). The recurrent p.(Pro540Ser) MEN1 genetic variant should be considered nonpathogenic: A case report. Am J Med Genet A 85, 3872-3876. CNIO Publication.