Von Hippel-Lindau disease: Surveillance strategy for endolymphatic sac tumors

Genetics in Medicine

Volumn 13, Issue 12, 2011, Pages 1032-1041

  Poulsen, Marie Louise Mølgaard ^a   Gimsing, Steen ^b   Kosteljanetz, Michael ^c   Møller, Hans Ulrik ^d   Brandt, Carsten Alfred ^b   Thomsen, Carsten ^c   Bisgaard, Marie Luise ^a,e  

^a UNIVERSITY OF COPENHAGEN   (Denmark)

^b LILLEBAELT HOSPITAL   (Denmark)

^c Rigshospitalet   (Denmark)

^d VIBORG HOSPITAL   (Denmark)

^e UNIVERSITY OF COPENHAGEN   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

VON HIPPEL LINDAU PROTEIN;

ADOLESCENT; ADULT; AGED; ARTICLE; AUDIOMETRY; CANCER EPIDEMIOLOGY; EAR TUMOR; ENDOLYMPHATIC SAC; ENDOLYMPHATIC SAC TUMOR; FEMALE; GENE MUTATION; HEARING TEST; HUMAN; MALE; META ANALYSIS (TOPIC); NUCLEAR MAGNETIC RESONANCE IMAGING; PROSPECTIVE STUDY; VON HIPPEL LINDAU DISEASE;

ADOLESCENT; ADULT; AGED; AUDIOMETRY; DENMARK; EAR NEOPLASMS; EARLY DIAGNOSIS; ENDOLYMPHATIC SAC; FEMALE; GENOTYPE; HEARING LOSS; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; PHENOTYPE; POPULATION SURVEILLANCE; PROSPECTIVE STUDIES; VON HIPPEL-LINDAU DISEASE; VON HIPPEL-LINDAU TUMOR SUPPRESSOR PROTEIN;

EID: 82955192636     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1097/GIM.0b013e31822beab1     Document Type: Article

References (50)

1. Manski TJ, Heffner DK, Glenn GM, et al. Endolymphatic sac tumors. A source of morbid hearing loss in von Hippel-Lindau disease. JAMA 1997;277:1461-1466. (Pubitemid 27208889)
2. Choo D, Shotland L, Mastroianni M, et al. Endolymphatic sac tumors in von Hippel-Lindau disease. J Neurosurg 2004;100:480-487. (Pubitemid 38269076)
3. Maher ER. Von Hippel-Lindau disease. Curr Mol Med 2004;4:833-842. (Pubitemid 39585728)
4. Kim HJ, Butman JA, Brewer C, et al. Tumors of the endolymphatic sac in patients with von Hippel-Lindau disease: implications for their natural history, diagnosis, and treatment. J Neurosurg 2005;102:503-512. (Pubitemid 43194043)
5. Jagannathan J, Lonser RR, Stanger RA, et al. Cochlear implantation for hearing loss associated with bilateral endolymphatic sac tumors in von Hippel-Lindau disease. Otol Neurotol 2007;28:927-930. (Pubitemid 47511568)
6. 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;23:378-387. (Pubitemid 34506651)
7. 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;350:2481-2486. (Pubitemid 38736545)
8. Hansen MR, Luxford WM. Surgical outcomes in patients with endolymphatic sac tumors. Laryngoscope 2004;114:1470-1474. (Pubitemid 39045523)
9. Gaffey MJ, Mills SE, Boyd JC. Aggressive papillary tumor of middle ear/temporal bone and adnexal papillary cystadenoma. Manifestations of von Hippel-Lindau disease. Am J Surg Pathol 1994;18:1254-1260. (Pubitemid 24362439)
10. Delisle MB, Uro E, Rouquette I, Yardeni E, Rumeau JL. Papillary neoplasm of the endolymphatic sac in a patient with von Hippel-Lindau disease. J Clin Pathol 1994;47:959-961.
11. Jagannathan J, Butman JA, Lonser RR, et al. Endolymphatic sac tumor demonstrated by intralabyrinthine hemorrhage. Case report. J Neurosurg 2007;107:421-425. (Pubitemid 47219389)
12. Megerian CA, McKenna MJ, Nuss RC, et al. Endolymphatic sac tumors: histopathologic confirmation, clinical characterization, and implication in von Hippel-Lindau disease. Laryngoscope 1995;105:801-808.
13. Kempermann G, Neumann HP, Scheremet R, et al. Deafness due to bilateral endolymphatic sac tumours in a case of von Hippel-Lindau syndrome. J Neurol Neurosurg Psychiatry 1996;61:318-320.
14. Tibbs RE Jr, Bowles AP Jr, Raila FA, Fratkin JD, Hutchins JB. Should endolymphatic sac tumors be considered part of the von Hippel-Lindau complex? Pathology case report. Neurosurgery 1997;40:848-855.
15. Ouallet JC, Marsot-Dupuch K, Van ER, et al. Papillary adenoma of endolymphatic sac origin: a temporal bone tumor in von Hippel-Lindau disease. Case report. J Neurosurg 1997;87:445-449. (Pubitemid 27362580)
16. Vortmeyer AO, Choo D, Pack SD, et al. von Hippel-Lindau disease gene alterations associated with endolymphatic sac tumor. J Natl Cancer Inst 1997;89:970-972.
17. Kawahara N, Kume H, Ueki K, et al. VHL gene inactivation in an endolymphatic sac tumor associated with von Hippel-Lindau disease. Neurology 1999;53:208-210. (Pubitemid 29329673)
18. Ayadi K, Mahfoudh KB, Khannous M, et al. Endolymphatic sac tumor and von Hippel-Lindau disease: imaging features. AJR Am J Roentgenol 2000;175:925-926.
19. Horiguchi H, Sano T, Toi H, Kageji T, Hirokawa M, Nagahiro S. Endolymphatic sac tumor associated with a von Hippel-Lindau disease patient: an immunohistochemical study. Mod Pathol 2001;14:727-732. (Pubitemid 32667219)
20. de MC, Giraud S, Bordure P, Richard S, Huy PT. Radiology quiz case. Papillary neoplasm of the endolymphatic sac in a patient with von Hippel-Lindau disease. Arch Otolaryngol Head Neck Surg 2002;128:855, 856.
21. Korner M, Linder T, Gebbers JO. Secretory IgA in the endolymphatic sac tumour. Histopathology 2003;42:98-99. (Pubitemid 36062578)
22. Williamson RA, Coker NJ. Endolymphatic sac tumor in von Hippel-Lindau disease. Otol Neurotol 2003;24:832. (Pubitemid 37122554)
23. Kupferman ME, Bigelow DC, Carpentieri DF, Bilaniuk LT, Kazahaya K. Endolymphatic sac tumor in a 4-year-old boy. Otol Neurotol 2004;25:782-786. (Pubitemid 39223256)
24. Hashimoto M, Yokota A, Urasaki E, Imada H, Yamamoto H. Surgical treatment of endolymphatic sac tumor with adjunctive stereotactic radiation therapy-case report. Neurol Med Chir (Tokyo) 2004;44:595-599. (Pubitemid 39612178)
25. Jensen RL, Gillespie D, House P, Layfield L, Shelton C. Endolymphatic sac tumors in patients with and without von Hippel-Lindau disease: the role of genetic mutation, von Hippel-Lindau protein, and hypoxia inducible factor-1alpha expression. J Neurosurg 2004;100:488-497. (Pubitemid 38269077)
26. Muzumdar DP, Goel A, Fattepurkar S, Goel N. Endolymphatic sac carcinoma of the right petrous bone in Von Hippel-Lindau disease. J Clin Neurosci 2006;13:471-474.
27. Schipper J, Maier W, Rosahl SK, et al. Endolymphatic sac tumours: surgical management. J Otolaryngol 2006;35:387-394. (Pubitemid 46064067)
28. Kilickesmez O. Endolymphatic sac tumor in a patient with von Hippel-Lindau disease: MR imaging findings. Diagn Interv Radiol 2006;12:14-16. (Pubitemid 43379729)
29. Bisceglia M, D'Angelo VA, Wenig BM. Endolymphatic sac papillary tumor (Heffner tumor). Adv Anat Pathol 2006;13:131-138. (Pubitemid 44341665)
30. Diaz RC, Amjad EH, Sargent EW, Larouere MJ, Shaia WT. Tumors and pseudotumors of the endolymphatic sac. Skull Base 2007;17:379-393.
31. Pavesi G, Feletti A, Berlucchi S, et al. Neurosurgical treatment of von Hippel-Lindau-associated hemangioblastomas: benefits, risks and outcome. J Neurosurg Sci 2008;52:29-36.
32. Skalova A, Sima R, Bohus P, Curik R, Lukas J, Michal M. Endolymphatic sac tumor (aggressive papillary tumor of middle ear and temporal bone): report of two cases with analysis of the VHL gene. Pathol Res Pract 2008;204:599-606.
33. Safatle PP, Farage L, Sampaio A, et al. Endolymphatic sac tumor and von Hippel-Lindau disease in a single family. Arq Neuropsiquiatr 2009;67:1097-1099.
34. Codreanu CM, Duet M, Hautefort C, et al. Endolymphatic sac tumors in von Hippel-Lindau disease: report of three cases. Otol Neurotol 2010;31:660-664.
35. Gomy I, Molfetta GA, de Andrade BE, et al. Clinical and molecular characterization of Brazilian families with von Hippel-Lindau disease: a need for delineating genotype-phenotype correlation. Fam Cancer 2010;9:635-642.
36. Rao Q, Zhou J, Wang JD, et al. Endolymphatic sac tumor with von Hippel-Lindau disease: report of a case with analysis of von Hippel-Lindau gene and review. Ann Diagn Pathol 2010;14:361-364.
37. Peyre M, Gaillard S, Van ER, Giraud S, Richard S. Conservative management of endolymphatic sac tumors in von Hippel-Lindau disease: case report. Acta Neurochir (Wien) 2011;153:42-47; discussion 47.
38. Hes FJ, van der Luijt RB, Janssen AL, et al. Frequency of Von Hippel-Lindau germline mutations in classic and non-classic Von Hippel-Lindau disease identified by DNA sequencing, Southern blot analysis and multiplex ligation-dependent probe amplification. Clin Genet 2007;72:122-129. (Pubitemid 47262082)
39. 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;298:41-48. (Pubitemid 47026769)
40. Lonser RR, Baggenstos M, Kim HJ, Butman JA, Vortmeyer AO. The vestibular aqueduct: site of origin of endolymphatic sac tumors. J Neurosurg 2008;108:751-756. (Pubitemid 351498971)
41. Mukherji SK, Albernaz VS, Lo WW, et al. Papillary endolymphatic sac tumors: CT, MR imaging, and angiographic findings in 20 patients. Radiology 1997;202:801-808. (Pubitemid 27093458)
42. Poulsen ML, Budtz-Jorgensen E, Bisgaard ML. Surveillance in von Hippel-Lindau disease (vHL). Clin Genet 2010;77:49-59.
43. Elberling C, Ludvigsen C, Lyregaard PE. DANTALE: a new Danish speech material. Scand Audiol 1989;18:169-175. (Pubitemid 19235019)
44. Li JC, Brackmann DE, Lo WW, Carberry JN, House JW. Reclassification of aggressive adenomatous mastoid neoplasms as endolymphatic sac tumors. Laryngoscope 1993;103:1342-1348. (Pubitemid 23354189)
45. Priesemann M, Davies KM, Perry LA, et al. Benefits of screening in von Hippel-Lindau disease-comparison of morbidity associated with initial tumours in affected parents and children. Horm Res 2006;66:1-5. (Pubitemid 43952580)
46. Codreanu C, Tran Ba HP. Isolate vertigo crisis revealing an endolymphatic sac tumor. Rom J Morphol Embryol 2010;51:387-389.
47. Butman JA, Linehan WM, Lonser RR. Neurologic manifestations of von Hippel-Lindau disease. JAMA 2008;300:1334-1342.
48. Lo WW, Applegate LJ, Carberry JN, et al. Endolymphatic sac tumors: radiologic appearance. Radiology 1993;189:199-204. (Pubitemid 23292949)
49. Bambakidis NC, Megerian CA, Ratcheson RA. Differential grading of endolymphatic sac tumor extension by virtue of von Hippel-Lindau disease status. Otol Neurotol 2004;25:773-781. (Pubitemid 39223255)
50. Connor SE, Leung R, Natas S. Imaging of the petrous apex: a pictorial review. Br J Radiol 2008;81:427-435. (Pubitemid 351743858)