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 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

doi:10.1002/hed.24067

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^*

^*Corresponding author for this work

Clinic of Surgery

15 Citations (Scopus)

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 language	English
Journal	Head and Neck
Volume	38
Pages (from-to)	673-679
Number of pages	7
ISSN	1043-3074
DOIs	https://doi.org/10.1002/hed.24067
Publication status	Published - 01.04.2016

Research Areas and Centers

Research Area: Luebeck Integrated Oncology Network (LION)

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This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1002/hed.24067

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Bausch, B., Wellner, U., Peyre, M., Boedeker, C. C., Hes, F. J., Anglani, M., De Campos, J. M., Kanno, H., Maher, E. R., Krauss, T., Sansó, G., Barontini, M., Letizia, C., Hader, C., Schiavi, F., Zanoletti, E., Suárez, C., Offergeld, C., Malinoc, A., ... Neumann, H. P. H. (2016). Characterization of endolymphatic sac tumors and von Hippel-Lindau disease in the International Endolymphatic Sac Tumor Registry. Head and Neck, 38, 673-679. https://doi.org/10.1002/hed.24067

@article{e498a7011a594e14b382fd942e0a36df,

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

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.",

author = "Birke Bausch and Ulrich Wellner and Mathieu Peyre and Boedeker, {Carsten C.} and Hes, {Frederik J.} and Mariagiulia Anglani and {De Campos}, {Jose M.} and Hiroshi Kanno and Maher, {Eamonn R.} and Tobias Krauss and Gabriela Sans{\'o} and Marta Barontini and Claudio Letizia and Claudia Hader and Francesca Schiavi and Elisabetta Zanoletti and Carlos Su{\'a}rez and Christian Offergeld and Angelica Malinoc and Stefan Zschiedrich and Sven Glasker and Serge Bobin and Olivier Sterkers and {Ba Huy}, {Patrice Tran} and Sophie Giraud and Thera Links and Charis Eng and Giuseppe Opocher and Stephane Richard and Neumann, {Hartmut P.H.}",

year = "2016",

month = apr,

day = "1",

doi = "10.1002/hed.24067",

language = "English",

volume = "38",

pages = "673--679",

journal = "Head and Neck",

issn = "1043-3074",

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Bausch, B, Wellner, U, Peyre, M, Boedeker, CC, Hes, FJ, Anglani, M, De Campos, JM, Kanno, H, Maher, ER, Krauss, T, Sansó, G, Barontini, M, Letizia, C, Hader, C, Schiavi, F, Zanoletti, E, Suárez, C, Offergeld, C, Malinoc, A, Zschiedrich, S, Glasker, S, Bobin, S, Sterkers, O, Ba Huy, PT, Giraud, S, Links, T, Eng, C, Opocher, G, Richard, S & Neumann, HPH 2016, 'Characterization of endolymphatic sac tumors and von Hippel-Lindau disease in the International Endolymphatic Sac Tumor Registry', Head and Neck, vol. 38, pp. 673-679. https://doi.org/10.1002/hed.24067

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.

UR - http://www.scopus.com/inward/record.url?scp=84973470532&partnerID=8YFLogxK

U2 - 10.1002/hed.24067

DO - 10.1002/hed.24067

M3 - Journal articles

C2 - 25867206

AN - SCOPUS:84973470532

SN - 1043-3074

VL - 38

SP - 673

EP - 679

JO - Head and Neck

JF - Head and Neck

ER -

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

Abstract

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