HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS		QUICK SEARCH:   [advanced] Author: Keyword(s): Year:  Vol:  Page:

This Article Figures Only Full Text Full Text (PDF) Submit a response Alert me when this article is cited Alert me when eLetters are posted Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Citing Articles Citing Articles via HighWire Citing Articles via Google Scholar Google Scholar Articles by Patronas, N. J. Articles by Parry, D. M. Search for Related Content PubMed PubMed Citation Articles by Patronas, N. J. Articles by Parry, D. M.

Intramedullary and Spinal Canal Tumors in Patients with Neurofibromatosis 2: MR Imaging Findings and Correlation with Genotype¹

¹ From the Department of Diagnostic Radiology, Clinical Center, National Institutes of Health, 10 Center Dr, MSC 1182, Rm 1C660, Bethesda, MD 20892-1182 (N.J.P.); Xenokratous 33, Athens, Greece (N.C.); the Department of Radiology, Northwestern Memorial Hospital, Chicago, Ill (G.L.K.); the Genetic Epidemiology Branch, National Cancer Institute, National Institutes of Health, Bethesda, Md (C.M.B., D.M.P.); and the Department of Neurology, Massachusetts General Hospital, Boston (M.M.). Received February 17, 2000; revision requested April 3; revision received June 20; accepted July 14. M.M. supported by a grant from the U.S. Army Research Command. Address correspondence to N.J.P. (e-mail: npatronas@nih.gov).

PURPOSE: To determine the appearance of spinal tumors on magnetic resonance (MR) images of patients with neurofibromatosis 2 (NF2), to assess the biologic behavior of these tumors, and to determine the correlation between NF2 germline mutations and these tumors.

MATERIALS AND METHODS: Spinal MR images in 49 patients with NF2 were reviewed retrospectively. Intramedullary and intradural extramedullary tumors were counted, and imaging features and growth patterns of intramedullary tumors were determined. Medical records were reviewed for spinal tumor surgery. Data on spinal tumors and NF2 germline mutations in 37 patients from 19 families were analyzed for genotype-phenotype correlation.

RESULTS: Thirty-one patients (63%) had spinal tumors: Twenty-six (53%) had intramedullary tumors, 27 (55%) had intradural extramedullary tumors, and 22 (45%) had at least one tumor of each type. Three (12%) patients with intramedullary tumors versus 16 (59%) with extramedullary tumors had undergone surgery for the respective types of tumors. Compared with patients with all other types of mutations, a higher percentage of patients with nonsense and frameshift mutations had intramedullary tumors (P < .025); these patients also had higher mean numbers of all tumors (P < .001), intramedullary tumors (P < .001), and nerve sheath tumors (NSTs) (P < .001).

CONCLUSION: In patients with NF2 and spinal tumors, extramedullary tumors (predominantly NSTs) were present in higher numbers and were associated with more surgery than were intramedullary tumors. Our data suggest that the association between nonsense and frameshift mutations and severe NF2 may extend to specific categories of spinal tumors.

Index terms: Genes and genetics • Neurofibromatosis, 30.1831 • Spinal cord, MR, 30.121411, 30.12143 • Spinal cord, neoplasms, 30.363, 30.364, 30.366

This article has been cited by other articles:

				M. Cihangiroglu, S. Yilmaz, C. Topsakal, U. Gok, B. Altinsoy, and B. Cobanoglu Laryngeal Neurofibroma Associated with Neurofibromatosis Type 2 AJNR Am. J. Neuroradiol., November 1, 2002; 23(10): 1637 - 1639. [Abstract] [Full Text] [PDF]