Characterization of endolymphatic sac tumors and von Hippel-Lindau disease in the International Endolymphatic Sac Tumor Registry.
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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, International Endolymphatic Sac Tumor (ELST) Consortium
Аннотация
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.