1. Healthcare

11th International VHL Symposium, October 23rd ‐ 25th, 2014 Scientific Meeting ‐ Date: October 23rd‐24th, 2014 Venue: Auditorium Ernest Lluch. Melchor Fernández Almagro, 3. 28029 Madrid Families’s day ‐ Date: October 25th, 2014 Venue: Aula Magna. Fundación Jiménez Díaz. Avda. Reyes Católicos, 2. 28040 Madrid AGENDA Wednesday, October 22nd 19.00‐20.00 p.m. Registration at the Hotel AC Cuzco Thursday, October 23rd Venue: Auditorium Ernest Lluch. Melchor Fernández Almagro, 3. 28029 Madrid 8.00 Bus to the CNIO (for those attendees hosted at the Hotel AC Cuzco) 8.00 Registration (at the Auditorium Ernest Lluch) 8.45 Welcome ‐ Mercedes Robledo 9.00 Opening Lecture Basic and clinical research in pheochromocytoma: a winning combination Karel Pacak National Institutes of Health, Bethesda, United States Session 1 New insight from OMIC approaches 9.30 Metabolomic profiling Othon Iliopoulos Center for Cancer Research, Massachusetts General Hospital Cancer Center, Charlestown, United States 9.55 Suppression of the Transcriptional Coactivator PGC‐1 alpha Drives Metabolic Reprogramming and Tumor Growth in Renal Cell Carcinoma Amato Giaccia Department of Radiation Oncology, Center for Clinical Sciences Research, Stanford University School of Medicine, Stanford, California, United States 10.20 Genetic studies of VHL and related disorders: impact of Next Generation Sequencing Eamonn R Maher Department of Medical Genetics, University of Cambridge, United Kingdom 10.45 Transcript‐omics in VHL disease and renal cell carcinoma Rathmell WK Lineberger Comprehensive Cancer Center, University of North Carolina, Chapel Hill, United States 11.10 Coffee Break Session 2: The Cilia Centrosome cycle and VHL 11.40 Role of VHL in Ciliogenesis Wilhelm Krek Institute of Molecular Health Sciences, ETH Zurich, Zurich, Switzerland 12.05 Aurora kinase and VHL in kidney cancer Yannick Arlot Institut de Génétique et Developpement de Rennes, Rennes, France Short oral presentations 12.30 Identification of molecular drivers of human hemangioblastoma Mianen Sun University of Texas MD Anderson Cancer Center, United States 12.45 Role of mutant von Hippel‐Lindau on angiogenesis Alexandra Arreola University of North Carolina at Chapel Hill, United States 13.00 L‐2‐Hydroxyglutarate: An Epigenetic Modifier and Putative Oncometabolite in Renal Cancer Sunil Sudarshan Urology, University of Alabama at Birmingham; United States 13.15 Next Generation Sequencing allows the identification of VHL mosaicism: study of a panel of 16 patients Pascal Pigny CHRU Lille, France 13.30 Lunch and poster view Session 3. Diagnosis, prognostic markers and management of VHL 15.00 Diagnosis and Clinical management of VHL disease Giuseppe Opocher Veneto Institute of Oncology, Padova, Italy 15.25 Molecular pathogenesis of a new syndrome of Pheo/Paraganglioma, somatostatinoma and Polycythemia with HIF2 alpha mutation Zhengping Zhuang Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, United States 15.50 Pathology of VHL disease Alexander Vortmeyer Yale University School of Medicine, New Haven, United States Short oral presentations 16.15 A comprehensive study of germline mutations in the VHL gene reveals the importance of precisely tuned dysregulation of the hypoxia pathway in oncogenesis Betty Gardie Ecole Pratique des Hautes Etudes, Villejuif, France
16.30 68Gallium‐DOTATATE PET/CT detects primary neuroendocrine tumors and metastases in patients with von Hippel‐Lindau Samira Sadowski National Institutes of Health, Bethesda, United States 16.45 Coffee Break 17.15 Screening and diagnostic aspects of Endolymphatic Sac Tumors ELSTs Marie Louise Mølgaard Binderup. Dept. of Cellular and Molecular Medicine, University of Copenhagen, Denmark 17.40 Pheochromocytoma and pregnancy in VHL patients Jacques Lenders Radboud University Medical Center Nijmegen, The Netherlands 18.05 Genetic counseling on VHL Ignacio Blanco Genetic Counseling and Clinical Genetics Program. Germans Trias Hospital, Barcelona, Spain
Short oral presentations 18.30 Von Hippel‐Lindau disease in childhood: a retrospective French series Caroline Abadie AP‐HP, Hôpital Bicêtre, France
18.45 Long‐term prognosis of resected pancreatic neuroendocrine tumors in von Hippel‐Lindau disease is favorable and not influenced by small tumors left in place Louis de Mestier Hôpital Robert Debré, Reims, France 19.00
Bus to the Hotel
20.45
Dinner
Friday, October 24th 8.00 Bus to the CNIO (for those attendees hosted at the Hotel AC Cuzco) Session 4. Current therapeutic scenario: from the animal models to the patient 8.45 State‐of‐the‐art of the therapeutic approaches Eric Jonasch Department of Genitourinary Medical Oncology, University of Texas MD Anderson Cancer Center, Houston, United States 9.10 A zebrafish model to study and therapeutically manipulate hypoxia signaling in tumorigenesis Rachel Giles University Medical Center Utrecht, The Netherland
9.35 Mouse models of cooperative tumour suppression in clear cell renal cell carcinoma Ian Frew Institute of Physiology, University of Zurich, Zurich, Switzerland Short oral presentations 10.00 Development of new experimental models for VHL disease by using patient‐
derived iPS cells. Eijiro Nakamura Medical Innovation Center, Kyoto University Graduate School of Medicine, Japan
10.15 Correction of folding defects of oncogenic pVHL by small molecules leads to restoration of its function in vitro and to development of a corresponding animal model for the disease Daniel Segal Tel Aviv University, Israel 10.30 Conditional inactivation of the mouse von Hippel–Lindau tumor suppressor gene results in wide‐spread hyperplastic, inflammatory, and fibrotic lesions in the kidney Tien Hsu Boston University School of Medicine, United States
10.45 Coffee Break 11.15 Cutting edge in systemic treatments of neuroendocrine tumours Jaume Capdevila Hospital Vall d'Hebron, Barcelona, Spain 11.40 Therapeutic markers of antiangiogenic drugs Cristina Rodríguez‐Antona Hereditary Endocrine Cancer Group, CNIO, Madrid, Spain 12.05 Therapeutic challenges in ocular involvement José García Arumi Department of Ophthalmology, Hospital Valle de Hebrón, Barcelona, Spain Short oral presentations 12.30 Functional imbalances in chromatin‐modifiers as novel targets in Renal Carcinomas. Abhishek Chakraborty Dana‐Farber Cancer Institute, Boston, United States
12.45 Exploiting synthetic lethality in kidney cancer to target the loss of the von Hippel‐
Lindau tumor suppressor gene Sandra Turcotte Université de Moncton, New Brunswick, Canada 13.00 Lunch and poster view Session 5. Challenges in surgery of VHL patients (talks: 20 minutes + 5 for discussion) 14.30 Therapy for sporadic and von Hippel–Lindau related hemangioblastomas of the central nervous system Sven Gläsker Department of Neurosurgery, Freiburg University Medical Center, Freiburg, Germany 14.55 Neurosurgery management of hemangioblastomas in difficult locations: Brain stem and spinal root hemangioblastomas ‐ role por neuronavegation and intraoperative neurophysiological monitoring José María de Campos Department of Neurosurgery, VHL Unit Care, Fundación Jiménez Díaz, Madrid, Spain 15.20 Radiosurgery in CNS hemangioblastomas. When and how? Mª Elena Kusak Department of Neurosurgery, Radiosurgery Unit, Hospital Ruber Internacional, Madrid, Spain Short oral presentations 15.45 Therapeutic strategies for central nervous system hemangioblastomas in von Hippel‐Lindau disease Hiroshi Kanno Yokohama City University, Japan
16.00 Quantitative image analysis indicates spatial niche formation but not malignant progression as driving force for intratumoral heterogeneity in clear cell renal cell carcinoma Stefan Duensing University of Heidelberg, Germany 16.15 Coffee Break 16.45 Minimally Invasive Surgery for Pheochromocytomas and Retroperitoneal Paragangliomas Martin K. Walz Kliniken Essen‐Mitte, Klinik für Chirugie und Zentrum für Minimal Invasive Chirugie, Essen, Germany
17.10 Surgery for EndolymphaticSac Tumors (ELST) and auditory rehabilitation Carlos Cenjor Fundación Jiménez Díaz, Madrid, Spain 17.35 Challenges in RCC surgery Jean‐Jacques Patard CHU, Bicêtre, France Short oral presentations 18.00 Mesonephric Carcinogenesis in VHL Disease Samuel Sommaruga Yale University, New Haven, United States 18.15 Percutaneous ablation of renal tumors in von Hippel‐Lindau disease Jean‐Michel Correas AP‐HP, Hôpital Bicêtre, Le Kremlin Bicêtre, France 18.45 – Bus to the Hotel
Families’s day. Saturday, October 25th Venue: Aula Magna. Fundación Jiménez Díaz. Avda. Reyes Católicos, 2. 28040 Madrid 8.00 Bus to the Fundación Jiménez Díaz (for those attendees hosted at the Hotel AC Cuzco) Presidencia de honor / Honour Presidence
S.M. la Reina Dña. Letizia H.M. the Queen Dña. Letizia
8.30 – 9.00 Registration at the Fundación Jiménez Díaz. There will be available simultaneous translation English‐Spanish. 9.00 Inauguración de la jornada y bienvenida (Welcome) Carmen Ayuso Department of Genetics, FJD Chair of the IIS‐Fundación Jiménez Díaz, UAM, Madrid, Spain 9.15 La enfermedad de VHL explicada a las familias (The VHL disease explained to the families) Karina Villar SESCAM. Health Service of Castilla‐La Mancha, Toledo, Spain. Vicepresident of Alianza Española VHL 9.45 La experiencia en una Unidad de Tratamiento Integral VHL española (The experience of a Spanish VHL Care Unit) José M. de Campos Department of Neurosurgery, VHL Care Unit, IIS‐Fundación Jiménez Díaz, Madrid, Spain 10.00 El punto de vista de dos pacientes VHL (The point of view of two VHL patients) Fernando Mora Serna Paula Piqueres Valenciano 10.20 Manejando las emociones del paciente VHL. Actividad interactiva con pacientes dirigida por un psicólogo clínico. (Dealing with Emotions of VHL Patient. Interactive activity with patients conducted by a psychologist) Roberto Álvarez Fundación Instituto San José. Hermanos de San Juan de Dios, Madrid, Spain 11.20 Break 12.00 VHLA´s Cancer in our Gene International Patient Databank Ilene Sussman VHL Family Alliance, EEUU 12.30 Alianza Española VHL: trabajando juntos para encontrar una cura (Spanish Alliance: Working together to find a cure) Susi Martínez President of the Spanish Alliance VHL, Spain 13.00 Clausura del Simposio (Closure of the Symposium and Farewell) José M. de Campos Department of Neurosurgery , VHL Care Unit, IIS‐Fundación Jiménez Díaz, Madrid, Spain 13.45 Cocktail‐Lunch