TY - JOUR
T1 - Characterization of endolymphatic sac tumors and von Hippel-Lindau disease in the International Endolymphatic Sac Tumor Registry
AU - Bausch, Birke
AU - Wellner, Ulrich
AU - Peyre, Mathieu
AU - Boedeker, Carsten C.
AU - Hes, Frederik J.
AU - Anglani, Mariagiulia
AU - De Campos, Jose M.
AU - Kanno, Hiroshi
AU - Maher, Eamonn R.
AU - Krauss, Tobias
AU - Sansó, Gabriela
AU - Barontini, Marta
AU - Letizia, Claudio
AU - Hader, Claudia
AU - Schiavi, Francesca
AU - Zanoletti, Elisabetta
AU - Suárez, Carlos
AU - Offergeld, Christian
AU - Malinoc, Angelica
AU - Zschiedrich, Stefan
AU - Glasker, Sven
AU - Bobin, Serge
AU - Sterkers, Olivier
AU - Ba Huy, Patrice Tran
AU - Giraud, Sophie
AU - Links, Thera
AU - Eng, Charis
AU - Opocher, Giuseppe
AU - Richard, Stephane
AU - Neumann, Hartmut P.H.
PY - 2016/4/1
Y1 - 2016/4/1
N2 - 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.
AB - 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.
KW - endolymphatic sac tumor
KW - prevalence
KW - temporal bone MRI
KW - von Hippel-Lindau
UR - http://www.scopus.com/inward/record.url?scp=84973470532&partnerID=8YFLogxK
UR - https://onlinelibrary.wiley.com/doi/10.1002/hed.24067
U2 - 10.1002/hed.24067
DO - 10.1002/hed.24067
M3 - Article
C2 - 25867206
AN - SCOPUS:84973470532
SN - 1043-3074
VL - 38
SP - E673-E679
JO - Head and Neck
JF - Head and Neck
IS - S1
ER -