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Molecular Neuro-Oncology Laboratory [M-P. R., K. M. C., D. N. L.], Department of Pathology (Neuropathology) [D. N. L.], Neurosurgical Service [L. B. J., D. N. L.], and Molecular Neurogenetics Unit [M. M. M., V. R., L. B. J., J. E G.], Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts 02129, and Institute for Neuropathology, University of Bonn, Bonn, Germany [A. v. D,]
2 To whom requests for reprints should be addressed, at Molecular Neuro-Oncology Laboratory, CNY6, Massachusetts General Hospital, Charlestown, MA 02129.
Ependymomas and astrocytomas commonly have allelic losses of chromosome 22q, which suggests the presence of a glioma tumor suppressor gene on 22q. A candidate tumor suppressor gene on 22q is the neurofibromatosis 2 (NF2) gene since NF2 patients have an increased susceptibility to ependymomas and astrocytomas. Using single strand conformation polymorphism analysis and direct DNA sequencing, we screened 8 ependymomas and 30 fibrillary astrocytomas from non-NF2 patients for mutations in the coding sequence and portions of the 3' untranslated region of the NF2 gene. Only one mutation was detected, a single base deletion in NF2 exon 7 from a spinal ependymoma, which had also lost the wild-type allele. These results suggest that the NF2 gene may be important in the formation of some ependymomas but the NF2 gene is probably not the critical chromosome 22q tumor suppressor gene involved in astrocytoma tumorigenesis.
1 Supported by American Cancer Society CB-31A [D. N. L.], NIH CA 57683 [J. F. G., D. N. L.], CA 51410 [L. B. J.], and NS 24279 [J. R G.], and by grants from the U.S. Army, Bristol-Myers Squibb, Inc., and Neurofibromatosis, Inc.—Mass. Bay Area. M. M. M. is a fellow of the Howard Hughes Medical Institute.
The costs of publication of this article were defrayed in part by the payment of page charges. This article must therefore be hereby marked advertisement in accordance with 18 U.S.C. Section 1734 solely to indicate this fact.
Received 10/26/93. Accepted 11/22/93.
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