1. Characterization of endolymphatic sac tumors and von Hippel-Lindau disease in the International Endolymphatic Sac Tumor Registry
- Author
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Birke, Bausch, Ulrich, Wellner, Mathieu, Peyre, Carsten C, Boedeker, Frederik J, Hes, Mariagiulia, Anglani, Jose M, de Campos, Hiroshi, Kanno, Eamonn R, Maher, Tobias, Krauss, Gabriela, Sansó, Marta, Barontini, Claudio, Letizia, Claudia, Hader, Francesca, Schiavi, Elisabetta, Zanoletti, Carlos, Suárez, Christian, Offergeld, Angelica, Malinoc, Stefan, Zschiedrich, Sven, Glasker, Serge, Bobin, Olivier, Sterkers, Patrice Tran, Ba Huy, Sophie, Giraud, Thera, Links, Charis, Eng, Giuseppe, Opocher, Stephane, Richard, Hartmut P H, Neumann, Guided Treatment in Optimal Selected Cancer Patients (GUTS), and Damage and Repair in Cancer Development and Cancer Treatment (DARE)
- Subjects
Adult ,Male ,von Hippel-Lindau Disease ,Adolescent ,endocrine system diseases ,FEATURES ,prevalence ,endolymphatic sac tumor ,urologic and male genital diseases ,Young Adult ,MANAGEMENT ,Humans ,Registries ,Child ,neoplasms ,temporal bone MRI ,Ear Neoplasms ,Germ-Line Mutation ,Aged ,MUTATIONS ,ORIGIN ,MIDDLE-EAR ,ADENOCARCINOMA ,Middle Aged ,female genital diseases and pregnancy complications ,ADENOMA ,Von Hippel-Lindau Tumor Suppressor Protein ,MORBID HEARING-LOSS ,Female ,Endolymphatic Sac ,von Hippel-Lindau ,SUPPRESSOR GENE - Abstract
Background. 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. Methods. 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. Results. 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. Conclusion. 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. (C) 2015 Wiley Periodicals, Inc.
- Published
- 2016