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

Aston Medical School

Research output: Contribution to journal › Article › peer-review

55 Citations (SciVal)

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
Pages (from-to)	E673-E679
Journal	Head and Neck
Volume	38
Issue number	S1
Early online date	13 Apr 2015
DOIs	https://doi.org/10.1002/hed.24067
Publication status	Published - 1 Apr 2016

Funding

Hartmut P.H. Neumann is supported by grants from the Deutsche Krebshilfe (Grant 107995 to H.P.H.N.). Stephane Richard is supported by grants from the Direction Generale de lOrganisation des Soins (French Department of Health), the Institut National du Cancer (INCa; French NCI), and the Ligue Nationale contre le Cancer (Comites du Cher et de lIndre; French League against Cancer).

Funders	Funder number
Direction Generale de lOrganisation des Soins
French Department of Health
National Cancer Institute
Japan Society for the Promotion of Science	15K10366
Ligue Contre le Cancer
Deutsche Krebshilfe	107995
Institut National Du Cancer

Keywords

endolymphatic sac tumor
prevalence
temporal bone MRI
von Hippel-Lindau

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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(S1), E673-E679. https://doi.org/10.1002/hed.24067

@article{8dff3be23bd7486abf906d7a500d5d3d,

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.",

keywords = "endolymphatic sac tumor, prevalence, temporal bone MRI, von Hippel-Lindau",

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 = "E673--E679",

journal = "Head and Neck",

issn = "1043-3074",

publisher = "Wiley",

number = "S1",

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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, no. S1, pp. E673-E679. 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.

KW - endolymphatic sac tumor

KW - prevalence

KW - temporal bone MRI

KW - von Hippel-Lindau

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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 -

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

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