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

• Published in: Head & neck Vol. 38; no. S1; pp. E673 - E679
• Main Authors: Bausch, Birke, Wellner, Ulrich, Peyre, Mathieu, Boedeker, Carsten C., Hes, Frederik J., Anglani, Mariagiulia, de Campos, Jose M., Kanno, Hiroshi, Maher, Eamonn R., Krauss, Tobias, Sansó, Gabriela, Barontini, Marta, Letizia, Claudio, Hader, Claudia, Schiavi, Francesca, Zanoletti, Elisabetta, Suárez, Carlos, Offergeld, Christian, Malinoc, Angelica, Zschiedrich, Stefan, Glasker, Sven, Bobin, Serge, Sterkers, Olivier, Ba Huy, Patrice Tran, Giraud, Sophie, Links, Thera, Eng, Charis, Opocher, Giuseppe, Richard, Stephane, Neumann, Hartmut P. H.
• Format: Journal Article
• Language: English
• Published: United States Blackwell Publishing Ltd 01.04.2016
• Subjects: Adolescent; Adult; Aged; Child; Ear Neoplasms - pathology; Endolymphatic Sac - pathology; endolymphatic sac tumor; Female; Germ-Line Mutation; Humans; Male; Middle Aged; prevalence; Registries; temporal bone MRI; von Hippel-Lindau; von Hippel-Lindau Disease - complications; Von Hippel-Lindau Tumor Suppressor Protein - genetics; Young Adult; prevalence; von Hippel-Lindau; endolymphatic sac tumor; temporal bone MRI
• ISSN: 1043-3074; 1097-0347; 1097-0347
• DOI: 10.1002/hed.24067

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. © 2015 Wiley Periodicals, Inc. Head Neck 38: 673–679, 2016