0 Neuro-Otology Branch, National Institute on Deafness and Other Communication Disorders; Diagnostic Radiology Department, Warren G. Magnuson Clinical Center, and Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke; and Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland; and Department of Otolaryngology—Head and Neck Surgery, Georgetown University Medical Center, Georgetown University, Washington, DC
Object. Endolymphatic sac tumors (ELSTs), which often are associated with von Hippel—Lindau (VHL) disease, cause irreversible hearing loss and vestibulopathy. Clinical and imaging surveillance protocols provide new insights into the natural history, mechanisms of symptom formation, and indications for the treatment of ELSTs. To clarify the uncertainties associated with the pathophysiology and treatment of ELSTs, the authors describe a series of patients with VHL disease in whom serial examinations recorded the development of ELSTs.
Methods. Patients with VHL disease were included if serial clinical and imaging studies captured the development of ELSTs, and the patients underwent tumor resection. The patients' clinical, audiological, and imaging characteristics as well as their operative results were analyzed.
Five consecutive patients (three men and two women) with a mean age at surgery of 34.8 years and a follow-up period of 6 to 18 months were included in this study. Audiovestibular symptoms were present in three patients before a tumor was evident on neuroimaging. Imaging evidence of an intralabyrinthine hemorrhage coincided with a loss of hearing in three patients. Successful resection of the ELSTs was accomplished by performing a retrolabyrinthine posterior petrosectomy (RLPP). Hearing stabilized and vestibular symptoms resolved after surgery in all patients. No patient has experienced a recurrence.
Conclusions. Audiovestibular symptoms, including hearing loss, in patients with VHL disease can be the result of microscopic ELSTs. Once an ELST has been detected, it can be completely resected via an RLPP with preservation of hearing and amelioration of vestibular symptoms. Early detection and surgical treatment of small ELSTs, when hearing is still present, should reduce the incidence and severity of hearing loss, tinnitus, vertigo, and cranial nerve dysfunction, which are associated with these tumors.
Address reprint requests to: Russell R. Lonser, M.D., Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Building 10, Room 5D37, Bethesda, Maryland 20892–1414. email: firstname.lastname@example.org.
ChooDShotlandLMastroianniMGlennGvan WaesCLinehanWMet al: Endolymphatic sac tumors in von Hippel-Lindau disease.J Neurosurg100:480–4872004Choo D Shotland L Mastroianni M Glenn G van Waes C Linehan WM et al: Endolymphatic sac tumors in von Hippel-Lindau disease. J Neurosurg 100:480–487 2004
HeffnerDK: Low-grade adenocarcinoma of probable endolymphatic sac origin. A clinicopathologic study of 20 cases.Cancer64:2292–23021989Heffner DK: Low-grade adenocarcinoma of probable endolymphatic sac origin. A clinicopathologic study of 20 cases. Cancer 64:2292–2302 1989
LatifFToryKGnarraJYaoMDuhFMOrcuttMLet al: Identification of the von Hippel-Lindau disease tumor suppressor gene.Science260:1317–13201993Latif F Tory K Gnarra J Yao M Duh FM Orcutt ML et al: Identification of the von Hippel-Lindau disease tumor suppressor gene. Science 260:1317–1320 1993
LonserRRGlennGMWaltherMChewEYLibuttiSKLinehanWMet al: von Hippel-Lindau disease.Lancet361:2059–20672003Lonser RR Glenn GM Walther M Chew EY Libutti SK Linehan WM et al: von Hippel-Lindau disease. Lancet 361:2059–2067 2003
LonserRRKimHJButmanJAVortmeyerAOChooDIOldfieldEH: Tumors of the endolymphatic sac in von Hippel-Lindau disease.N Engl J Med350:2481–24862004Lonser 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 350:2481–2486 2004
LonserRRWaitSDButmanJAVortmeyerAOWaltherMMGovernaleLSet al: Surgical management of lumbosacral nerve root hemangioblastomas in von Hippel-Lindau syndrome.J Neurosurg Spine99:64–692003Lonser RR Wait SD Butman JA Vortmeyer AO Walther MM Governale LS et al: Surgical management of lumbosacral nerve root hemangioblastomas in von Hippel-Lindau syndrome. J Neurosurg Spine 99:64–69 2003
LonserRRWeilRJWaneboJEDeVroomHLOldfieldEH: Surgical management of spinal cord hemangioblastomas in patients with von Hippel-Lindau disease.J Neurosurg98:106–1162003Lonser RR Weil RJ Wanebo JE DeVroom HL Oldfield EH: Surgical management of spinal cord hemangioblastomas in patients with von Hippel-Lindau disease. J Neurosurg 98:106–116 2003
ManskiTJHeffnerDKGlennGMPatronasNJPikusATKatzDet al: Endolymphatic sac tumors. A source of morbid hearing loss in von Hippel-Lindau disease.JAMA277:1461–14661997Manski TJ Heffner DK Glenn GM Patronas NJ Pikus AT Katz D et al: Endolymphatic sac tumors. A source of morbid hearing loss in von Hippel-Lindau disease. JAMA 277:1461–1466 1997
MegerianCAHaynesDSPoeDSChooDIKeriakasTJGlasscockMGIII: Hearing preservation surgery for small endolymphatic sac tumors in patients with von Hippel-Lindau syndrome.Otol Neurotol23:378–3872002Megerian CA Haynes DS Poe DS Choo DI Keriakas TJ Glasscock MG III: Hearing preservation surgery for small endolymphatic sac tumors in patients with von Hippel-Lindau syndrome. Otol Neurotol 23:378–387 2002
MukherjiSKAlbernazVSLoWWGaffeyMJMegerianCAFeghaliJGet al: Papillary endolymphatic sac tumors: CT, MR imaging, and angiographic findings in 20 patients.Radiology202:801–8081997Mukherji SK Albernaz VS Lo WW Gaffey MJ Megerian CA Feghali JG et al: Papillary endolymphatic sac tumors: CT MR imaging and angiographic findings in 20 patients. Radiology 202:801–808 1997
NeumannHPWiestlerOD: Clustering of features of von Hippel-Lindau syndrome: evidence for a complex genetic locus.Lancet337:1052–10541991Neumann HP Wiestler OD: Clustering of features of von Hippel-Lindau syndrome: evidence for a complex genetic locus. Lancet 337:1052–1054 1991
WaneboJELonserRRGlennGMOldfieldEH: The natural history of hemangioblastomas of the central nervous system in patients with von Hippel-Lindau disease.J Neurosurg98:82–942003Wanebo JE Lonser RR Glenn GM Oldfield EH: The natural history of hemangioblastomas of the central nervous system in patients with von Hippel-Lindau disease. J Neurosurg 98:82–94 2003
WeilRJLonserRRDeVroomHLWaneboJEOldfieldEH: Surgical management of brainstem hemangioblastomas in patients with von Hippel-Lindau disease.J Neurosurg98:95–1052003Weil RJ Lonser RR DeVroom HL Wanebo JE Oldfield EH: Surgical management of brainstem hemangioblastomas in patients with von Hippel-Lindau disease. J Neurosurg 98:95–105 2003