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J Neurol Surg B Skull Base 2022; 83(S 02): e225-e231
DOI: 10.1055/s-0041-1725033
Original Article

Endolymphatic Sac Tumor Screening and Diagnosis in von Hippel-Lindau Disease: A Consensus Statement

Gautam U. Mehta 
1   Division of Neurosurgery, House Institute, Los Angeles, California, United States
,
H. Jeffery Kim
2   Neuro-Otology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland, United States
3   Department of Otolaryngology-Head and Neck Surgery, Georgetown University Medical Center, Washington, District of Columbia, United States
,
Paul W. Gidley 
4   Department of Head and Neck Surgery, The University of Texas M.D. Anderson Cancer Center, Houston, Texas, United States
,
Anthony B. Daniels
5   Division of Ocular Oncology and Pathology, Department of Ophthalmology and Visual Sciences, Vanderbilt University Medical Center, Nashville, Tennessee, United States
,
Mia E. Miller
6   Division of Neurotology, House Institute, Los Angeles, California, United States
,
Gregory P. Lekovic
1   Division of Neurosurgery, House Institute, Los Angeles, California, United States
,
John A. Butman
7   Neuroradiology Section, Radiology and Imaging Sciences Department, The Clinical Center, National Institutes of Health, Bethesda, Maryland, United States
,
Russell R. Lonser
8   Department of Neurological Surgery, The Ohio State University Wexner Medical Center, Ohio State University, Columbus, Ohio, United States
› Institutsangaben Funding This work was supported in part by the National Eye Institute grant NIH/NEI 5K08EY027464–02 [ABD].
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Abstract

Objective Endolymphatic sac tumors (ELSTs) are a frequent cause of hearing loss and other audiovestibular dysfunction in patients with von Hippel-Lindau disease (VHL). Unified screening recommendations for VHL patients have not been established. To develop consensus guidelines, the VHL Alliance formed an expert committee to define evidence-based clinical screening recommendations.

Patients and Methods Recommendations were formulated by using the Grading of Recommendations, Assessment, Development, and Evaluation framework after a comprehensive literature review.

Results Diagnosis of ELSTs in VHL requires a combination of clinical evaluation and imaging and audiometric findings. Audiovestibular signs/symptoms are often an early feature of small ELSTs, including those that are not visible on imaging. Diagnostic audiograms have the greatest sensitivity for the detection of ELST-associated sensorineural hearing loss and can help confirm clinically relevant lesions, including those that may not be radiographically evident. Magnetic resonance imaging (MRI) can be a more specific test for ELSTs in VHL particularly when supplemented with computed tomography imaging for the identification of small tumors. VHL patients between the ages 10 and 60 years carry high preponderance for ELST presentation.

Conclusion We recommend that clinical evaluation (yearly) and diagnostic audiograms (every other year) be the primary screening tools for ELSTs in VHL. We suggest that screening be performed between the ages 11 and 65 years or with the onset of audiovestibular signs/symptoms for synchronicity with other testing regimens in VHL. We recommend that baseline imaging (MRI of the internal auditory canals) can be performed between the ages of 15 and 20 years or after positive screening.

Keywords

audiogram - audiovestibular - endolymphatic sac tumor - hearing loss - magnetic resonance imaging - screening - von Hippel-Lindau disease


Publikationsverlauf

Eingereicht: 23. September 2020

Angenommen: 01. Januar 2021

Artikel online veröffentlicht:
08. April 2021

© 2021. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 

  • References

  • 1 Lonser RR, Baggenstos M, Kim HJ, Butman JA, Vortmeyer AO. The vestibular aqueduct: site of origin of endolymphatic sac tumors. J Neurosurg 2008; 108 (04) 751-756
    CrossrefPubMedGoogle Scholar
  • 2 Heffner DK. Low-grade adenocarcinoma of probable endolymphatic sac origin A clinicopathologic study of 20 cases. Cancer 1989; 64 (11) 2292-2302
    CrossrefPubMedGoogle Scholar
  • 3 Li JC, Brackmann DE, Lo WW, Carberry JN, House JW. Reclassification of aggressive adenomatous mastoid neoplasms as endolymphatic sac tumors. Laryngoscope 1993; 103 (12) 1342-1348
    CrossrefPubMedGoogle Scholar
  • 4 Pollak A, Böhmer A, Spycher M, Fisch U. Are papillary adenomas endolymphatic sac tumors?. Ann Otol Rhinol Laryngol 1995; 104 (08) 613-619
    CrossrefPubMedGoogle Scholar
  • 5 Megerian CA, McKenna MJ, Nuss RC. et al. Endolymphatic sac tumors: histopathologic confirmation, clinical characterization, and implication in von Hippel-Lindau disease. Laryngoscope 1995; 105 (8 Pt 1): 801-808
    CrossrefPubMedGoogle Scholar
  • 6 Manski TJ, Heffner DK, Glenn GM. et al. Endolymphatic sac tumors. A source of morbid hearing loss in von Hippel-Lindau disease. JAMA 1997; 277 (18) 1461-1466
    CrossrefPubMedGoogle Scholar
  • 7 Choo D, Shotland L, Mastroianni M. et al. Endolymphatic sac tumors in von Hippel-Lindau disease. J Neurosurg 2004; 100 (03) 480-487
    CrossrefPubMedGoogle Scholar
  • 8 Poulsen MLM, Gimsing S, Kosteljanetz M. et al. von Hippel-Lindau disease: surveillance strategy for endolymphatic sac tumors. Genet Med 2011; 13 (12) 1032-1041
    CrossrefPubMedGoogle Scholar
  • 9 Bausch B, Wellner U, Peyre M. et al. International Endolymphatic Sac Tumor (ELST) Consortium. Characterization of endolymphatic sac tumors and von Hippel-Lindau disease in the International Endolymphatic Sac Tumor Registry. Head Neck 2016; 38 (10, Suppl 1): E673-E679
    CrossrefPubMedGoogle Scholar
  • 10 Butman JA, Kim HJ, Baggenstos M. et al. Mechanisms of morbid hearing loss associated with tumors of the endolymphatic sac in von Hippel-Lindau disease. JAMA 2007; 298 (01) 41-48
    CrossrefPubMedGoogle Scholar
  • 11 Megerian CA, Haynes DS, Poe DS, Choo DI, Keriakas TJ, Glasscock ME III. Hearing preservation surgery for small endolymphatic sac tumors in patients with von Hippel-Lindau syndrome. Otol Neurotol 2002; 23 (03) 378-387
    CrossrefPubMedGoogle Scholar
  • 12 Kim HJ, Hagan M, Butman JA. et al. Surgical resection of endolymphatic sac tumors in von Hippel-Lindau disease: findings, results, and indications. Laryngoscope 2013; 123 (02) 477-483
    CrossrefPubMedGoogle Scholar
  • 13 Binderup MLM, Bisgaard ML, Harbud V. et al. Von Hippel-Lindau disease (vHL). National clinical guideline for diagnosis and surveillance in Denmark. 3rd edition Dan Med J. 2013; 60 (12) B4763
    PubMedGoogle Scholar
  • 14 Alliance VHL. VHLA Suggested Active Surveillance Guidelines. VHL Alliance. Published online 2017:1–2. . Accessed 2020 at: https://vhl.org/wp-content/uploads/2017/07/Active-Surveillance-Guidelines.pdf
    PubMedGoogle Scholar
  • 15 Rednam SP, Erez A, Druker H. et al. Von Hippel-Lindau and hereditary pheochromocytoma/paraganglioma syndromes: clinical features, genetics, and surveillance recommendations in childhood. Clin Cancer Res 2017; 23 (12) e68-e75
    CrossrefPubMedGoogle Scholar
  • 16 Atkins D, Best D, Briss PA. et al; GRADE Working Group. Grading quality of evidence and strength of recommendations. BMJ 2004; 328 (7454): 1490
    CrossrefPubMedGoogle Scholar
  • 17 NCCN Categories of Evidence and Consensus. Accessed 2020 at: https://www.nccn.org/professionals/physician_gls/categories_of_consensus.aspx#nccnpreference
    PubMedGoogle Scholar
  • 18 Alliance VHL. VHLA suggested active surveillance guidelines. Accessed October 5, 2020 at: https://www.vhl.org/wp-content/uploads/2020/04/Active-Surveillance-Guidelines-2020.pdf
    PubMedGoogle Scholar
  • 19 Binderup MLM, Gimsing S, Kosteljanetz M, Thomsen C, Bisgaard ML. von Hippel-Lindau disease: deafness due to a non-MRI-visible endolymphatic sac tumor despite targeted screening. Int J Audiol 2013; 52 (11) 771-775
    CrossrefPubMedGoogle Scholar
  • 20 Butman JA, Nduom E, Kim HJ, Lonser RR. Imaging detection of endolymphatic sac tumor-associated hydrops. J Neurosurg 2013; 119 (02) 406-411
    CrossrefPubMedGoogle Scholar
  • 21 Costa AF, van der Pol CB, Maralani PJ. et al. Gadolinium deposition in the brain: a systematic review of existing guidelines and policy statement issued by the Canadian Association of Radiologists. Can Assoc Radiol J 2018; 69 (04) 373-382
    CrossrefPubMedGoogle Scholar
  • 22 Lonser RR, Kim HJ, Butman JA, Vortmeyer AO, Choo DI, Oldfield EH. Tumors of the endolymphatic sac in von Hippel-Lindau disease. N Engl J Med 2004; 350 (24) 2481-2486
    CrossrefPubMedGoogle Scholar
  • 23 Tweed JJ, Davies ML, Faulkner K, Rawlings DJ, Forster E. Patient dose and associated risk due to radiological investigation of the internal auditory meatus. Br J Radiol 1991; 64 (761) 447-451
    CrossrefPubMedGoogle Scholar
  • 24 Niu Y, Wang Z, Liu Y, Liu Z, Yao V. Radiation dose to the lens using different temporal bone CT scanning protocols. AJNR Am J Neuroradiol 2010; 31 (02) 226-229
    CrossrefPubMedGoogle Scholar
  • 25 Graff J. Patient perspectives on radiation dose. J Am Coll Radiol 2014; 11 (03) 243-245
    CrossrefPubMedGoogle Scholar
  • 26 Kupferman ME, Bigelow DC, Carpentieri DF, Bilaniuk LT, Kazahaya K. Endolymphatic sac tumor in a 4-year-old boy. Otol Neurotol 2004; 25 (05) 782-786
    CrossrefPubMedGoogle Scholar
  • 27 Bright K, Eichwald J, Tanner G. et al. American Academy of Audiology Childhood Hearing Screening Guidelines. Accessed 2011 at: https://www.cdc.gov/ncbddd/hearingloss/documents/AAA_Childhood%20Hearing%20Guidelines_2011.pdf
    PubMedGoogle Scholar
  • 28 Chahoud J, McGettigan M, Parikh N. et al; International VHL Surveillance Guidelines Consortium-Renal Committee. Evaluation, diagnosis and surveillance of renal masses in the setting of VHL disease. World J Urol 2020; 0123456789
    PubMedGoogle Scholar
  • 29 Sackett DL. Rules of evidence and clinical recommendations on the use of antithrombotic agents. Chest 1989; 95 (2, Suppl): 2S-4S
    CrossrefPubMedGoogle Scholar