Neurology
HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
QUICK SEARCH:   [advanced]


     

This Article
Right arrow Figures Only
Right arrow Full Text
Right arrow Full Text (PDF)
Right arrow Correspondence:
Submit a response
Right arrow Alert me when this article is cited
Right arrow Alert me when Correspondence are posted
Right arrow Alert me if a correction is posted
Right arrow Citation Map
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Download to citation manager
Right arrow reprints & permissions
Citing Articles
Right arrow Citing Articles via HighWire
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Kawahara, N.
Right arrow Articles by Kirino, T.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Kawahara, N.
Right arrow Articles by Kirino, T.
Neurology 1999;53:208
© 1999 American Academy of Neurology
Brief Communications

VHL gene inactivation in an endolymphatic sac tumor associated with von Hippel– Lindau disease

N. Kawahara, MD, PhD, H. Kume, MD, K. Ueki, MD, PhD, K. Mishima, MD, PhD, T. Sasaki, MD, PhD and T. Kirino, MD, PhD

From the Departments of Neurosurgery (Drs. Kawahara, Ueki, Mishima, Sasaki, and Kirino) and Molecular Pathology (Dr. Kume), Faculty of Medicine, University of Tokyo, Japan.

Address correspondence and reprint requests to Dr. Takaaki Kirino, Department of Neurosurgery, Faculty of Medicine, University of Tokyo, 7-3-1, Hongo, Bunkyo-ku, Tokyo 113-8655, Japan; e-mail: tkirino-tky{at}umin.ac.jp

The authors present a case of endolymphatic sac tumor, a rare adenomatous tumor of the temporal bone, in a patient with von Hippel–Lindau (VHL) disease. Sequencing and microsatellite analysis of DNA samples from the tumor showed a 1-base pair deletion in exon 1 of the VHL gene and loss of heterozygosity at chromosome 3p25.5, the locus for the VHL gene. The results indicate that VHL gene inactivation contributed to the oncogenesis of endolymphatic sac tumor and provide molecular genetic proof that this tumor is associated with VHL disease.




This article has been cited by other articles:


Home page
 Cancer Res.Home page
S. Glasker, R. R. Lonser, M. G.B. Tran, B. Ikejiri, J. A. Butman, W. Zeng, P. H. Maxwell, Z. Zhuang, E. H. Oldfield, and A. O. Vortmeyer
Effects of VHL Deficiency on Endolymphatic Duct and Sac
Cancer Res., December 1, 2005; 65(23): 10847 - 10853.
[Abstract] [Full Text] [PDF]

Home page
 J. Med. Genet.Home page
J C C Rocha, R L A Silva, B B Mendonca, S Marui, A J G Simpson, and A A Camargo
High frequency of novel germline mutations in the VHL gene in the heterogeneous population of Brazil
J. Med. Genet., March 1, 2003; 40(3): e31 - 31.
[Full Text] [PDF]

Home page
 Cancer Res.Home page
A. O. Vortmeyer, S. C. Huang, C. A. Koch, L. Governale, R. D. Dickerman, P. E. McKeever, E. H. Oldfield, and Z. Zhuang
Somatic von Hippel-Lindau Gene Mutations Detected in Sporadic Endolymphatic Sac Tumors
Cancer Res., November 1, 2000; 60(21): 5963 - 5965.
[Abstract] [Full Text]

Home page
 NeurologyHome page
A. O. Vortmeyer, D. Choo, S. Pack, E. Oldfield, Z. Zhuang, N. Kawahara, H. Kume, K. Ueki, K. Mishima, T. Sasaki, et al.
VHL gene inactivation in an endolymphatic sac tumor associated with von Hippel-Lindau disease
Neurology, August 8, 2000; 55(3): 460 - 460.
[Full Text] [PDF]

Home page
 NeurologyHome page
E. S. Roach
Von Hippel-Lindau disease
Neurology, July 1, 1999; 53(1): 7 - 7.
[Full Text]


HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
Copyright © 1999 by AAN Enterprises, Inc.