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Division of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia [J. A. B., C. D. B., B. S. E.]; Department of Pediatrics, University of Pennsylvania School of Medicine [J. A. B., B. S. E.]; and Departments of Human Genetics [B. S. E.] and Pathology and Laboratory Medicine [F. G. B.], Hospital of the University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104
Primitive neuroectodermal tumors of the central nervous system are the most common malignant brain tumors in children. Cytogenetic analysis of these tumors has demonstrated alterations of chromosome 17, in particular isochromosome 17q, as the most frequent chromosomal abnormality detected. Since the consistent loss of a specific chromosomal region in a given tumor type most likely indicates the presence of a tumor related gene in that region, we undertook a combined molecular and cytogenetic approach to examine alterations of chromosome 17 in primitive neuroectodermal tumors. Seven of 14 tumors analyzed demonstrated loss of alleles for loci on 17p. In three of the seven tumors tested, a loss in copy number was observed for only the most telomeric locus on 17p13.3, D17S34. Limited sequence analysis of the same seven tumors did not reveal mutations in four highly conserved coding regions of the p53 gene. These data suggest a new tumor associated locus on 17p distinct from and distal to TP53, which is involved in the initiation or progression of at least a subset of primitive neuroectodermal tumors.
1 This work was supported by the NIH (CA-46274) and the Association for Brain Tumor Research.
2 To whom requests for reprints should be addressed, at Division of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia, 34th and Civic Center Blvd., Philadelphia, PA 19104.
Received 1/10/92. Accepted 4/ 6/92.
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