title: Characterization of endolymphatic sac tumors and von Hippel-Lindau disease in the International Endolymphatic Sac Tumor Registry.
abstract: Endolymphatic sac tumors (ELSTs) are, with a prevalence of up to 16%, a component of von Hippel-Lindau (VHL) disease. Data from international registries regarding heritable fraction and characteristics, germline VHL mutation frequency, and prevalence are lacking.
  
  
  
  Systematic registration of ELSTs from international centers of otorhinolaryngology and from multidisciplinary VHL centers' registries was performed. Molecular genetic analyses of the VHL gene were offered to all patients.
  
  
  
  Our population-based registry comprised 93 patients with ELST and 1789 patients with VHL. The prevalence of VHL germline mutations in apparently sporadic ELSTs was 39%. The prevalence of ELSTs in patients with VHL was 3.6%. ELST was the initial manifestation in 32% of patients with VHL-ELST.
  
  
  
  Prevalence of ELST in VHL disease is much lower compared to the literature. VHL-associated ELSTs can be the first presentation of the syndrome and mimic sporadic tumors, thus emphasizing the need of molecular testing in all presentations of ELST. © 2015 Wiley Periodicals, Inc. Head Neck 38: 673-679, 2016.
authors: Second Department of Medicine, Albert-Ludwigs-University of Freiburg, Freiburg, Germany.
authors: Birke
authors: B
authors: Bausch
authors: Department of Surgery, University Hospital Schleswig-Holstein, Campus Luebeck, Luebeck, Germany.
authors: Ulrich
authors: U
authors: Wellner
authors: Center Expert National Cancers Rares PREDIR, AP-HP INCa, Hôpital de Bicêtre, Le Kremlin-Bicêtre, France.|Génétique Oncologique EPHE, INSERM U 753, Faculté de Médecine Paris Sud and Institut de Cancérologie Gustave Roussy, Villejuif, France and Service de Neurochirurgie, AP-HP, Hôpital Beaujon, Clichy, France.
authors: Mathieu
authors: M
authors: Peyre
authors: Department of Otorhinolaryngology, University Medical Center, Albert-Ludwigs-University, Freiburg.|HELIOS Hanseklinikum Stralsund, Stralsund, Germany.
authors: Carsten C
authors: CC
authors: Boedeker
authors: Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
authors: Frederik J
authors: FJ
authors: Hes
authors: Department of Neuroradiology, University of Padova, Padova, Italy.
authors: Mariagiulia
authors: M
authors: Anglani
authors: Department of Neurosurgery, IIS - Fundación Jiménez Díaz. UAM, Madrid, Spain.
authors: Jose M
authors: JM
authors: de Campos
authors: Department of Neurosurgery, Yokohama City University, Yokohama, Japan.
authors: Hiroshi
authors: H
authors: Kanno
authors: Department of Medical Genetics, University of Cambridge and NIHR Cambridge Biomedical Research Center, Cambridge, United Kingdom.
authors: Eamonn R
authors: ER
authors: Maher
authors: Department of Radiology, Albert-Ludwigs-University of Freiburg, Freiburg, Germany.
authors: Tobias
authors: T
authors: Krauss
authors: Centro de Investigaciones Endocrinológicas (CONICET), Hospital de Niños "R. Gutiérrez,", Buenos Aires, Argentina.
authors: Gabriela
authors: G
authors: Sansó
authors: Centro de Investigaciones Endocrinológicas (CONICET), Hospital de Niños "R. Gutiérrez,", Buenos Aires, Argentina.
authors: Marta
authors: M
authors: Barontini
authors: Department of Internal Medicine and Medical Specialities, University of Rome "Sapienza,", Rome, Italy.
authors: Claudio
authors: C
authors: Letizia
authors: Department of Neuroradiology, Albert-Ludwigs-University, Freiburg, Germany.|Department of Radiology and Nuclear Medicine, Kantonsspital St., Gallen, Switzerland.
authors: Claudia
authors: C
authors: Hader
authors: Familial Cancer Clinic and Oncoendocrinology, Veneto Institute of Oncology IRCCS, Padova, Italy.
authors: Francesca
authors: F
authors: Schiavi
authors: Otolaryngology, Department of Otosurgery - Neurosciences, University Hospital of Padova, Padova, Italy.
authors: Elisabetta
authors: E
authors: Zanoletti
authors: Department of Otolaryngology, Hospital Universitario Central de Asturias and IUOPA, Universidad de Oviedo, Spain.
authors: Carlos
authors: C
authors: Suárez
authors: Department of Otorhinolaryngology, University Medical Center, Albert-Ludwigs-University, Freiburg.
authors: Christian
authors: C
authors: Offergeld
authors: Department of Nephrology and Hypertension, Albert-Ludwigs-University, Freiburg, Germany.
authors: Angelica
authors: A
authors: Malinoc
authors: Department of Nephrology and Hypertension, Albert-Ludwigs-University, Freiburg, Germany.
authors: Stefan
authors: S
authors: Zschiedrich
authors: Department of Neurosurgery, Albert-Ludwigs-University, Freiburg, Germany.
authors: Sven
authors: S
authors: Glasker
authors: Service d'ORL, AP-HP, Hôpital de Bicêtre, Le Kremlin-Bicêtre, France.
authors: Serge
authors: S
authors: Bobin
authors: AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Unité Otologie, Implants auditifs et Chirurgie de la base du crâne, Paris, France.|Université Paris, Pierre et Marie Curie, France.
authors: Olivier
authors: O
authors: Sterkers
authors: Service d'ORL, AP-HP, Hôpital Lariboisière, Paris, France.
authors: Patrice Tran
authors: PT
authors: Ba Huy
authors: Center Expert National Cancers Rares PREDIR, AP-HP INCa, Hôpital de Bicêtre, Le Kremlin-Bicêtre, France.|Laboratoire de Génétique, Hôpital Edouard Herriot, Lyon, France.
authors: Sophie
authors: S
authors: Giraud
authors: Department of Endocrinology, Groningen University Medical Center, Groningen, The Netherlands.
authors: Thera
authors: T
authors: Links
authors: Genomic Medicine Institute, Lerner Research Institute and Taussig Cancer Institute, Cleveland Clinic, Cleveland, Ohio.
authors: Charis
authors: C
authors: Eng
authors: Familial Cancer Clinic and Oncoendocrinology, Veneto Institute of Oncology IRCCS, Padova, Italy.
authors: Giuseppe
authors: G
authors: Opocher
authors: Center Expert National Cancers Rares PREDIR, AP-HP INCa, Hôpital de Bicêtre, Le Kremlin-Bicêtre, France.|Génétique Oncologique EPHE, INSERM U 753, Faculté de Médecine Paris Sud and Institut de Cancérologie Gustave Roussy, Villejuif, France and Service de Neurochirurgie, AP-HP, Hôpital Beaujon, Clichy, France.
authors: Stephane
authors: S
authors: Richard
authors: Department of Nephrology and Hypertension, Albert-Ludwigs-University, Freiburg, Germany.
authors: Hartmut P H
authors: HP
authors: Neumann
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D004428:Ear Neoplasms / Q000473:pathology*; D004712:Endolymphatic Sac / Q000473:pathology*; D005260:Female; D018095:Germ-Line Mutation; D006801:Humans; D008297:Male; D008875:Middle Aged; D012042:Registries; D051794:Von Hippel-Lindau Tumor Suppressor Protein / Q000235:genetics; D055815:Young Adult; D006623:von Hippel-Lindau Disease / Q000150:complications*
chemical_list: D051794:Von Hippel-Lindau Tumor Suppressor Protein
keywords: endolymphatic sac tumor; prevalence; temporal bone MRI; von Hippel-Lindau