Genetics of Pheochromocytoma and Paraganglioma

David Taïeb, Anne Barlier, Chunzhang Yang, Morgane Pertuit, Aurélie Tchoghandjian, Claire Rochette, Hélène Zattara-Canoni, Dominique Figarella-Branger, Zhengping Zhuang, Karel Pacak, Philippe Metellus, Somatic gain-of-function HIF2A mutations in sporadic central nervous system hemangioblastomas. Journal of Neuro-oncology. ,vol. 126, pp. 473- 481 ,(2016) , 10.1007/S11060-015-1983-Y

Chunzhang Yang, Christopher S Hong, Josef T Prchal, Melina T Balint, Karel Pacak, Zhengping Zhuang, None, Somatic mosaicism of EPAS1 mutations in the syndrome of paraganglioma and somatostatinoma associated with polycythemia Human Genome Variation. ,vol. 2, pp. 15053- 15053 ,(2015) , 10.1038/HGV.2015.53

Hartmut Neumann, Dietmar P Berger, Gunther Sigmund, Ulrich Blum, Dieter Schmidt, Robert J Parmer, Brigitte Volk, Gunter Kirste, None, Pheochromocytomas, Multiple Endocrine Neoplasia Type 2, and von Hippel-Lindau Disease New England Journal of Medicine. ,vol. 329, pp. 1531- 1538 ,(1993) , 10.1056/NEJM199311183292103

Zhengping Zhuang, Chunzhang Yang, Ales Ryska, Yuan Ji, Yingyong Hou, Sky D Graybill, Petra Bullova, Irina A Lubensky, Günter Klöppel, Karel Pacak, HIF2A gain-of-function mutations detected in duodenal gangliocytic paraganglioma Endocrine-related Cancer. ,vol. 23, ,(2016) , 10.1530/ERC-16-0148

Marc Bennedbæk, Maria Rossing, Åse K Rasmussen, Anne-Marie Gerdes, Anne-Bine Skytte, Uffe B Jensen, Finn C Nielsen, Thomas v O Hansen, None, Identification of eight novel SDHB, SDHC, SDHD germline variants in Danish pheochromocytoma/paraganglioma patients Hereditary Cancer in Clinical Practice. ,vol. 14, pp. 13- 13 ,(2016) , 10.1186/S13053-016-0053-6

Lori Képénékian, Thomas Mognetti, Jean-Christophe Lifante, Anne-Laure Giraudet, Claire Houzard, Stéphane Pinson, Françoise Borson-Chazot, Patrick Combemale, Interest of systematic screening of pheochromocytoma in patients with neurofibromatosis type 1 European Journal of Endocrinology. ,vol. 175, pp. 335- 344 ,(2016) , 10.1530/EJE-16-0233

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, Karel Pacak, None, Novel insights into the polycythemia-paraganglioma-somatostatinoma syndrome. Endocrine-related Cancer. ,vol. 23, pp. 899- 908 ,(2016) , 10.1530/ERC-16-0231

Ivana Jochmanova, Karel Pacak, Pheochromocytoma: The First Metabolic Endocrine Cancer Clinical Cancer Research. ,vol. 22, pp. 5001- 5011 ,(2016) , 10.1158/1078-0432.CCR-16-0606

Khadija Lahlou-Laforet, Judith Favier, Anne-Paule Gimenez-Roqueplo, Nelly Burnichon, Jean-Michaël Mazzella, Delphine Drui, Laurence Amar, Jérôme Bertherat, Isabelle Coupier, Brigitte Delemer, Isabelle Guilhem, Philippe Herman, Véronique Kerlan, Antoine Tabarin, Nelly Wion, Risk assessment of maternally inherited SDHD paraganglioma and phaeochromocytoma Journal of Medical Genetics. ,vol. 54, pp. 125- 133 ,(2017) , 10.1136/JMEDGENET-2016-104297

Bruna Babic, Dhaval Patel, Rachel Aufforth, Yasmine Assadipour, Samira M. Sadowski, Martha Quezado, Naris Nilubol, Tamara Prodanov, Karel Pacak, Electron Kebebew, Pediatric patients with pheochromocytoma and paraganglioma should have routine preoperative genetic testing for common susceptibility genes in addition to imaging to detect extra-adrenal and metastatic tumors. Surgery. ,vol. 161, pp. 220- 227 ,(2017) , 10.1016/J.SURG.2016.05.059