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Trisha Dwight, Edward Kim, Karine Bastard, Diana E Benn, Graeme Eisenhofer, Susan Richter, Massimo Mannelli, Elena Rapizzi, Aleksander Prejbisz, Mariola Pęczkowska, Karel Pacak, and Roderick Clifton-Bligh

. in 2012 when somatic gain-of-function variants were identified in patients with PPGL, somatostatinoma and polycythemia. Now termed the Pacak-Zhuang syndrome, these EPAS1 variants cluster around proline 531, one of two HIF-2α hydroxylation residues

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Jenny Welander, Adam Andreasson, Michael Brauckhoff, Martin Bäckdahl, Catharina Larsson, Oliver Gimm, and Peter Söderkvist

an elevated concentration of red blood cells, have mutations in VHL , EGLN1 or in EPAS1 , the gene encoding HIF2α ( Bento et al . 2014 ). Recently, somatic gain-of-function mutations in EPAS1 have been reported for the first time, to our

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Rodrigo Almeida Toledo

are also shared by both ccRCC and PPGLs. According to the results of tumor profiling studies, VHL -mutated ccRCCs and EPAS1 (HIF2α)-mutated PPGLs present elevated levels of the HIF2α target genes VEGFA , CCND1 and GLUT1 , which are involved in

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Rodrigo A Toledo, Yuejuan Qin, Subramanya Srikantan, Nicole Paes Morales, Qun Li, Yilun Deng, Sang-Woo Kim, Maria Adelaide A Pereira, Sergio P A Toledo, Xiaoping Su, Ricardo C T Aguiar, and Patricia L M Dahia

Sanchez-Malo C Ramirez-Tortosa CL Pedrinaci S Rapizzi E Ercolino T Bernini G Tumoral EPAS1 (HIF2A) mutations explain sporadic pheochromocytoma and paraganglioma in the absence of erythrocytosis Human Molecular Genetics 2013 doi:10

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Nicole Bechmann, Mats Leif Moskopp, Martin Ullrich, Bruna Calsina, Pål William Wallace, Susan Richter, Markus Friedemann, Katharina Langton, Stephanie M J Fliedner, Henri J L M Timmers, Svenja Nölting, Felix Beuschlein, Martin Fassnacht, Aleksander Prejbisz, Karel Pacak, Hans K Ghayee, Stefan R Bornstein, Peter Dieterich, Jens Pietzsch, Ben Wielockx, Mercedes Robledo, Nan Qin, and Graeme Eisenhofer

2 ( GOT2 ), dihydrolipoamide S-succinyltransferase ( DLST ), and hypoxia-inducible factor 2α ( HIF2α ) also known as EPAS1 ( Cascón et al. 2019 ). Among this group, SDHB -mutated paragangliomas are especially prone to metastatic disease

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Eamonn R Maher

, Yao et al . 2010 ). Recently, several groups have demonstrated that oncogenic mutations in HIF2A / EPAS1 leading to HIF2 stabilisation can be implicated in the pathogenesis of pheochromocytomas and paragangliomas ( Zhuang et al . 2012 , Comino

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Joakim Crona, Angela Lamarca, Suman Ghosal, Staffan Welin, Britt Skogseid, and Karel Pacak

molecular subgroups that have been linked to distinct driver genes ( Fishbein et al. 2017 ): pseudohypoxia ( SDHA , SDHB , SDHC , SDHD , SDHAF2 , FH , VHL , EPAS1 and EGLN1 ), Wnt-altered ( CSDE1 or MAML3 ) and kinase signaling ( RET , NF1

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Roland Därr, Joan Nambuba, Jaydira Del Rivero, Ingo Janssen, Maria Merino, Milena Todorovic, Bela Balint, Ivana Jochmanova, Josef T Prchal, Ronald M Lechan, Arthur S Tischler, Vera Popovic, Dragana Miljic, Karen T Adams, F Ryan Prall, Alexander Ling, Meredith R Golomb, Michael Ferguson, Naris Nilubol, Clara C Chen, Emily Chew, David Taïeb, Constantine A Stratakis, Tito Fojo, Chunzhang Yang, Electron Kebebew, Zhengping Zhuang, and Karel Pacak

-mediated degradation, have been associated with secondary polycythemia and multiple PGLs ( Yang et al . 2014 ). Nevertheless, the occurrence of PGL together with polycythemia is rare ( Dionne et al . 2006 ). Somatic mutations in HIF2A ( EPAS1 ), affecting PHD

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Bora E Baysal and Eamonn R Maher

identified somatic mutations in EPAS1 which encodes the HIF2α subunit in sporadic (mostly non-head and neck) paragangliomas, a subset of which was accompanied by polycythemia ( Zhuang et al . 2012 , Comino-Mendez et al . 2013 , Toledo et al . 2013

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Ernst von Dobschuetz, Helena Leijon, Camilla Schalin-Jäntti, Francesca Schiavi, Michael Brauckhoff, Mariola Peczkowska, Giovanna Spiazzi, Serena Demattè, Maria Enrica Cecchini, Paola Sartorato, Jolanta Krajewska, Kornelia Hasse-Lazar, Katarzyna Roszkowska-Purska, Elisa Taschin, Angelica Malinoc, Lars A Akslen, Johanna Arola, Dariusz Lange, Ambrogio Fassina, Gianmaria Pennelli, Mattia Barbareschi, Jutta Luettges, Aleksander Prejbisz, Andrzej Januszewicz, Tim Strate, Birke Bausch, Frederic Castinetti, Barbara Jarzab, Giuseppe Opocher, Charis Eng, and Hartmut P H Neumann

mutations of the new susceptibility genes FH , PHD1 ( EGLN2 ), and PHD2 ( EGLN1 ), head and neck paragangliomas have not been reported ( Castro-Vega et al . 2014 , Yang et al . 2015 ). Somatic mutations of the HIF2A ( EPAS1 ) gene have been