von Hippel-Lindau disease: surveillance strategy for endolymphatic sac tumors

Marie Louise Mølgaard Poulsen; Steen Gimsing; Michael Kosteljanetz; Hans Ulrik Møller; Carsten Alfred Brandt; Carsten Thomsen; Søs Marie Luise Bisgaard

doi:10.1097/gim.0b013e31822beab1

von Hippel-Lindau disease: surveillance strategy for endolymphatic sac tumors

Marie Louise Mølgaard Poulsen, Steen Gimsing, Michael Kosteljanetz, Hans Ulrik Møller, Carsten Alfred Brandt, Carsten Thomsen, Søs Marie Luise Bisgaard

17 Citations (Scopus)

Abstract

PURPOSE:: Up to 16% of patients with the hereditary von Hippel-Lindau disease develop endolymphatic sac tumors of the inner ear. Early diagnosis and treatment of endolymphatic sac tumors can prevent audiovestibular morbidity, but optimal endolymphatic sac tumor surveillance strategy has yet to be determined. We aimed to evaluate endolymphatic sac tumor surveillance to determine the best surveillance strategy. METHODS:: In a national prospective study, 40 VHL mutation carriers were interviewed about audiovestibular symptoms and had audiological examinations and magnetic resonance imaging of the inner ear. Further, we performed a meta-analysis including all reported endolymphatic sac tumor von Hippel-Lindau disease cases in the literature (N = 140 with 156 endolymphatic sac tumors). RESULTS:: In the prospective study, endolymphatic sac tumors were suspected based on audiovestibular symptoms, audiometry, and magnetic resonance imaging in 34%, 30%, and 12.5% of subjects, respectively. In total, more than 90% of radiologically diagnosed endolymphatic sac tumors were associated with abnormal audiometric findings. No endolymphatic sac tumor genotype-phenotype correlations were found. CONCLUSION:: We recommend annual audiometry as a first-line endolymphatic sac tumor screening tool, and in countries where periodic surveillance magnetic resonance imaging of the central nervous system is performed, specific images of the inner ear should be included. Audiometric abnormalities in patients with von Hippel-Lindau disease without magnetic resonance imaging-visible endolymphatic sac tumors could be due to microscopic endolymphatic sac tumors. Determination of audiometric endolymphatic sac tumor characteristics could further target screening and improve endolymphatic sac tumor diagnosis.

Original language	English
Journal	Genetics In Medicine
Volume	13
Issue number	12
Pages (from-to)	1032-41
Number of pages	10
ISSN	1098-3600
DOIs	https://doi.org/10.1097/gim.0b013e31822beab1
Publication status	Published - Dec 2011

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http://www.gimjournal.org/article/S1098360021036194/pdf

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title = "von Hippel-Lindau disease: surveillance strategy for endolymphatic sac tumors",

abstract = "PURPOSE:: Up to 16% of patients with the hereditary von Hippel-Lindau disease develop endolymphatic sac tumors of the inner ear. Early diagnosis and treatment of endolymphatic sac tumors can prevent audiovestibular morbidity, but optimal endolymphatic sac tumor surveillance strategy has yet to be determined. We aimed to evaluate endolymphatic sac tumor surveillance to determine the best surveillance strategy. METHODS:: In a national prospective study, 40 VHL mutation carriers were interviewed about audiovestibular symptoms and had audiological examinations and magnetic resonance imaging of the inner ear. Further, we performed a meta-analysis including all reported endolymphatic sac tumor von Hippel-Lindau disease cases in the literature (N = 140 with 156 endolymphatic sac tumors). RESULTS:: In the prospective study, endolymphatic sac tumors were suspected based on audiovestibular symptoms, audiometry, and magnetic resonance imaging in 34%, 30%, and 12.5% of subjects, respectively. In total, more than 90% of radiologically diagnosed endolymphatic sac tumors were associated with abnormal audiometric findings. No endolymphatic sac tumor genotype-phenotype correlations were found. CONCLUSION:: We recommend annual audiometry as a first-line endolymphatic sac tumor screening tool, and in countries where periodic surveillance magnetic resonance imaging of the central nervous system is performed, specific images of the inner ear should be included. Audiometric abnormalities in patients with von Hippel-Lindau disease without magnetic resonance imaging-visible endolymphatic sac tumors could be due to microscopic endolymphatic sac tumors. Determination of audiometric endolymphatic sac tumor characteristics could further target screening and improve endolymphatic sac tumor diagnosis.",

author = "Poulsen, {Marie Louise M{\o}lgaard} and Steen Gimsing and Michael Kosteljanetz and M{\o}ller, {Hans Ulrik} and Brandt, {Carsten Alfred} and Carsten Thomsen and Bisgaard, {S{\o}s Marie Luise}",

year = "2011",

month = dec,

doi = "10.1097/gim.0b013e31822beab1",

language = "English",

volume = "13",

pages = "1032--41",

journal = "Genetics In Medicine",

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TY - JOUR

T1 - von Hippel-Lindau disease: surveillance strategy for endolymphatic sac tumors

AU - Poulsen, Marie Louise Mølgaard

AU - Gimsing, Steen

AU - Kosteljanetz, Michael

AU - Møller, Hans Ulrik

AU - Brandt, Carsten Alfred

AU - Thomsen, Carsten

AU - Bisgaard, Søs Marie Luise

PY - 2011/12

Y1 - 2011/12

N2 - PURPOSE:: Up to 16% of patients with the hereditary von Hippel-Lindau disease develop endolymphatic sac tumors of the inner ear. Early diagnosis and treatment of endolymphatic sac tumors can prevent audiovestibular morbidity, but optimal endolymphatic sac tumor surveillance strategy has yet to be determined. We aimed to evaluate endolymphatic sac tumor surveillance to determine the best surveillance strategy. METHODS:: In a national prospective study, 40 VHL mutation carriers were interviewed about audiovestibular symptoms and had audiological examinations and magnetic resonance imaging of the inner ear. Further, we performed a meta-analysis including all reported endolymphatic sac tumor von Hippel-Lindau disease cases in the literature (N = 140 with 156 endolymphatic sac tumors). RESULTS:: In the prospective study, endolymphatic sac tumors were suspected based on audiovestibular symptoms, audiometry, and magnetic resonance imaging in 34%, 30%, and 12.5% of subjects, respectively. In total, more than 90% of radiologically diagnosed endolymphatic sac tumors were associated with abnormal audiometric findings. No endolymphatic sac tumor genotype-phenotype correlations were found. CONCLUSION:: We recommend annual audiometry as a first-line endolymphatic sac tumor screening tool, and in countries where periodic surveillance magnetic resonance imaging of the central nervous system is performed, specific images of the inner ear should be included. Audiometric abnormalities in patients with von Hippel-Lindau disease without magnetic resonance imaging-visible endolymphatic sac tumors could be due to microscopic endolymphatic sac tumors. Determination of audiometric endolymphatic sac tumor characteristics could further target screening and improve endolymphatic sac tumor diagnosis.

AB - PURPOSE:: Up to 16% of patients with the hereditary von Hippel-Lindau disease develop endolymphatic sac tumors of the inner ear. Early diagnosis and treatment of endolymphatic sac tumors can prevent audiovestibular morbidity, but optimal endolymphatic sac tumor surveillance strategy has yet to be determined. We aimed to evaluate endolymphatic sac tumor surveillance to determine the best surveillance strategy. METHODS:: In a national prospective study, 40 VHL mutation carriers were interviewed about audiovestibular symptoms and had audiological examinations and magnetic resonance imaging of the inner ear. Further, we performed a meta-analysis including all reported endolymphatic sac tumor von Hippel-Lindau disease cases in the literature (N = 140 with 156 endolymphatic sac tumors). RESULTS:: In the prospective study, endolymphatic sac tumors were suspected based on audiovestibular symptoms, audiometry, and magnetic resonance imaging in 34%, 30%, and 12.5% of subjects, respectively. In total, more than 90% of radiologically diagnosed endolymphatic sac tumors were associated with abnormal audiometric findings. No endolymphatic sac tumor genotype-phenotype correlations were found. CONCLUSION:: We recommend annual audiometry as a first-line endolymphatic sac tumor screening tool, and in countries where periodic surveillance magnetic resonance imaging of the central nervous system is performed, specific images of the inner ear should be included. Audiometric abnormalities in patients with von Hippel-Lindau disease without magnetic resonance imaging-visible endolymphatic sac tumors could be due to microscopic endolymphatic sac tumors. Determination of audiometric endolymphatic sac tumor characteristics could further target screening and improve endolymphatic sac tumor diagnosis.

U2 - 10.1097/gim.0b013e31822beab1

DO - 10.1097/gim.0b013e31822beab1

M3 - Journal article

C2 - 21912262

SN - 1098-3600

VL - 13

SP - 1032

EP - 1041

JO - Genetics In Medicine

JF - Genetics In Medicine

IS - 12

ER -

von Hippel-Lindau disease: surveillance strategy for endolymphatic sac tumors

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