Introduction Although the first descriptions of von Hippel-Lindau (VHL) disease were in the 19th century, phaeochromocytoma was first associated with VHL disease only about 50 years ago ( Glushien et al. 1953 ). Traditionally, an
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Tobias Krauss, Alfonso Massimiliano Ferrara, Thera P Links, Ulrich Wellner, Irina Bancos, Andrey Kvachenyuk, Karina Villar Gómez de las Heras, Marina Y Yukina, Roman Petrov, Garrett Bullivant, Laura von Duecker, Swati Jadhav, Ursula Ploeckinger, Staffan Welin, Camilla Schalin-Jäntti, Oliver Gimm, Marija Pfeifer, Joanne Ngeow, Kornelia Hasse-Lazar, Gabriela Sansó, Xiaoping Qi, M Umit Ugurlu, Rene E Diaz, Nelson Wohllk, Mariola Peczkowska, Jens Aberle, Delmar M Lourenço Jr, Maria A A Pereira, Maria C B V Fragoso, Ana O Hoff, Madson Q Almeida, Alice H D Violante, Ana R P Quidute, Zhewei Zhang, Mònica Recasens, Luis Robles Díaz, Tada Kunavisarut, Taweesak Wannachalee, Sirinart Sirinvaravong, Eric Jonasch, Simona Grozinsky-Glasberg, Merav Fraenkel, Dmitry Beltsevich, Viacheslav I Egorov, Dirk Bausch, Matthias Schott, Nikolaus Tiling, Gianmaria Pennelli, Stefan Zschiedrich, Roland Därr, Juri Ruf, Timm Denecke, Karl-Heinrich Link, Stefania Zovato, Ernst von Dobschuetz, Svetlana Yaremchuk, Holger Amthauer, Özer Makay, Attila Patocs, Martin K Walz, Tobias B Huber, Jochen Seufert, Per Hellman, Raymond H Kim, Ekaterina Kuchinskaya, Francesca Schiavi, Angelica Malinoc, Nicole Reisch, Barbara Jarzab, Marta Barontini, Andrzej Januszewicz, Nalini Shah, William F Young Jr, Giuseppe Opocher, Charis Eng, Hartmut P H Neumann, and Birke Bausch
opportunities for early detection and prevention. Hereditary neoplasia syndromes such as von Hippel–Lindau disease (VHL) reflect a major challenge and major opportunity. VHL is characterized by specific tumors in different organs. Optimal surveillance and
Samuel M O’Toole, Anju Sahdev, Satya Bhattacharya, Roger Feakins, Evelien F Gevers, and William M Drake
Dear Editor, Pancreatic neuroendocrine tumours (pNETs) are an established feature of von Hippel–Lindau disease (VHL), occurring in up to 17% of mutation carriers ( Libutti et al. 2000 , Blansfield et al. 2007 , Erlic et al. 2010
Saya Ahmad, Myrthe R Naber, Rachel H Giles, Gerlof D Valk, and Rachel S van Leeuwaarde
Introduction Von Hippel–Lindau (VHL) disease is a hereditary syndrome associated with the development of multi-organ neoplasms ( Feletti et al. 2016 , Dwyer & Tu 2017 ). The estimated incidence is around 1 in 36,000 live births ( Lonser et
Aristides Lytras and George Tolis
s α) activation, provides an example of a phenotype associated with a post zygotic gene alteration that is present in multiple but not in all tissues/cells. Mosaicism has been also reported for other syndromes such as the von Hippel–Lindau disease
Umasuthan Srirangalingam, Bernard Khoo, Lisa Walker, Fiona MacDonald, Robert H Skelly, Emad George, David Spooner, Linda B Johnston, John P Monson, Ashley B Grossman, W M Drake, Scott A Akker, Patrick J Pollard, Nick Plowman, Norbert Avril, Daniel M Berney, Jacky M Burrin, Rodney H Reznek, V K Ajith Kumar, Eamonn R Maher, and Shern L Chew
affected father ( subject 28 ) but mutation analysis not done), while three fulfilled clinical criteria for VHL disease. Mutations are listed in Table 2 . Table 2 Genetic mutations and disease phenotype in the succinate dehydrogense-B and von Hippel-Lindau
Elizabeth Grubbs, Daniel Halperin, Steven G Waguespack, and Robert F Gagel
Overview The multiple endocrine neoplasia syndromes are a varied group of disorders that include multiple endocrine neoplasia types 1 and 2 (MEN 1, MEN 2), von Hippel-Lindau (VHL) disease , Carney complex (CC), hereditary pheochromocytoma
Dewi Astuti, Christopher J Ricketts, Rasheduzzaman Chowdhury, Michael A McDonough, Dean Gentle, Gail Kirby, Susanne Schlisio, Rajappa S Kenchappa, Bruce D Carter, William G Kaelin Jr, Peter J Ratcliffe, Christopher J Schofield, Farida Latif, and Eamonn R Maher
DR Woodward ER Maxwell PH Ratcliffe PJ Maher ER 2001 Contrasting effects on HIF-1α regulation by disease-causing pVHL mutations correlate with patterns of tumourigenesis in von Hippel–Lindau disease . Human Molecular Genetics 10 1029
Tobias Else
causes for three classic cancer syndromes for which PC is a well-recognized clinical feature were identified: neurofibromatosis type 1 ( NF1 ), von Hippel-Lindau ( VHL ) disease, and multiple endocrine neoplasia type 2 ( RET ) ( Cawthon et al . 1990
Zoran Erlic, Ursula Ploeckinger, Alberto Cascon, Michael M Hoffmann, Laura von Duecker, Aurelia Winter, Gerit Kammel, Janina Bacher, Maren Sullivan, Berend Isermann, Lars Fischer, Andreas Raffel, Wolfram Trudo Knoefel, Matthias Schott, Tobias Baumann, Oliver Schaefer, Tobias Keck, Richard P Baum, Ioana Milos, Mihaela Muresan, Mariola Peczkowska, Andrzej Januszewicz, Kenko Cupisti, Anke Tönjes, Mathias Fasshauer, Jan Langrehr, Peter von Wussow, Abbas Agaimy, Günter Schlimok, Regina Lamberts, Thorsten Wiech, Kurt Werner Schmid, Alexander Weber, Mercedes Nunez, Mercedes Robledo, Charis Eng, Hartmut P H Neumann, and for the VHL-ICT Consortium and the German NET Registry
. 1997 , Brandi et al . 2001 ); and 3) ICT in patients with von Hippel–Lindau disease (VHL; Doherty 2005 , Woodward & Maher 2006 , Blansfield et al . 2007 , Corcos et al . 2008 , Toumpanakis & Caplin 2008 ). MEN1 and VHL are autosomal dominant