Characterization of endolymphatic sac tumors and von Hippel-Lindau disease in the International Endolymphatic Sac Tumor Registry

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 ZschiedrichSven Glasker, Serge Bobin, Olivier Sterkers, Patrice Tran Ba Huy, Sophie Giraud, Thera Links, Charis Eng, Giuseppe Opocher, Stephane Richard, Hartmut P H Neumann

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)E673-E679
JournalHead and Neck
Volume38
DOIs
Publication statusPublished - Apr 1 2016

Keywords

  • endolymphatic sac tumor
  • prevalence
  • temporal bone MRI
  • von Hippel-Lindau

ASJC Scopus subject areas

  • Otorhinolaryngology

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