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 Gläsker; Serge Bobin; Olivier Sterkers; Patrice Tran Ba Huy; Sophie Giraud; Thera Links; Charis Eng; Giuseppe Opocher; Stephane Richard; Hartmut P H Neumann; International Endolymphatic Sac Tumor (ELST) Consortium

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 Gläsker, Serge Bobin, Olivier Sterkers, Patrice Tran Ba Huy, Sophie Giraud, Thera Links, Charis Eng, Giuseppe Opocher, Stephane Richard, Hartmut P H Neumann, International Endolymphatic Sac Tumor (ELST) Consortium

Medische genetica

Onderzoeksoutput: Article › peer review

50 Citaten (Scopus)

Samenvatting

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.

Originele taal-2	English
Pagina's (van-tot)	E673-9
Tijdschrift	Head & Neck
Volume	38 Suppl 1
DOI's	https://doi.org/10.1002/hed.24067
Status	Published - apr 2016

Toegang tot document

10.1002/hed.24067

Citeer dit

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., ... International Endolymphatic Sac Tumor (ELST) Consortium (2016). Characterization of endolymphatic sac tumors and von Hippel-Lindau disease in the International Endolymphatic Sac Tumor Registry. Head & Neck, 38 Suppl 1, E673-9. https://doi.org/10.1002/hed.24067

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 ; Gläsker, 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. / Characterization of endolymphatic sac tumors and von Hippel-Lindau disease in the International Endolymphatic Sac Tumor Registry. In: Head & Neck. 2016 ; Vol. 38 Suppl 1. blz. E673-9.

@article{d8f40d1fba0a4b8cab83d65b325b97b2,

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. {\textcopyright} 2015 Wiley Periodicals, Inc. Head Neck 38: 673-679, 2016.",

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 Gl{\"a}sker 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} and {International Endolymphatic Sac Tumor (ELST) Consortium}",

note = "{\textcopyright} 2015 Wiley Periodicals, Inc.",

year = "2016",

month = apr,

doi = "10.1002/hed.24067",

language = "English",

volume = "38 Suppl 1",

pages = "E673--9",

journal = "Head & Neck",

issn = "1043-3074",

publisher = "Wiley",

}

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, Gläsker, S, Bobin, S, Sterkers, O, Ba Huy, PT, Giraud, S, Links, T, Eng, C, Opocher, G, Richard, S, Neumann, HPH & International Endolymphatic Sac Tumor (ELST) Consortium 2016, 'Characterization of endolymphatic sac tumors and von Hippel-Lindau disease in the International Endolymphatic Sac Tumor Registry', Head & Neck, vol. 38 Suppl 1, blz. E673-9. https://doi.org/10.1002/hed.24067

Characterization of endolymphatic sac tumors and von Hippel-Lindau disease in the International Endolymphatic Sac Tumor Registry. / 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; Gläsker, 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.

In: Head & Neck, Vol. 38 Suppl 1, 04.2016, blz. E673-9.

Onderzoeksoutput: Article › peer review

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 - Gläsker, 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

AU - International Endolymphatic Sac Tumor (ELST) Consortium

PY - 2016/4

Y1 - 2016/4

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

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

U2 - 10.1002/hed.24067

DO - 10.1002/hed.24067

M3 - Article

C2 - 25867206

VL - 38 Suppl 1

SP - E673-9

JO - Head & Neck

JF - Head & Neck

SN - 1043-3074

ER -

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

Samenvatting

Toegang tot document

Vingerafdruk

Citeer dit