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Reduction to homozygosity and gene amplification in central nervous system primitive neuroectodermal tumors of
C Raffel1, F E Gilles, K I Weinberg
1Division of Pediatric Neurosurgery, Childrens Hospital, Los Angeles, California 90027.
Abstract:
The loss of genetic material from specific chromosomal locations has been identified for a number of pediatric tumors. This loss has been taken as evidence for the importance of tumor suppressor genes at these loci in the genesis of these tumors. One of these pediatric tumors, the primitive neuroectodermal tumor of the central nervous system, has not been well studied. In this report, an analysis of primitive neuroectodermal tumors for allelic deletions on chromosomes 1p, 7q, 10, 11p, 13q, and 17p has been performed. One of ten tumors was found to have increased copies of c-myc. Three different patients were found to reduce to homozygosity at one of three different locations. Significantly, however, three of nine informative patients showed a reduction to homozygosity on chromosome 17p. Thus, primitive neuroectodermal tumor is one of a growing number of tumor types in which deletions in the short arm of chromosome 17 might be important in oncogenesis.
Insights
Genetic material loss is key in pediatric tumors. This study finds chromosome 17p deletions are significant in primitive neuroectodermal tumors, suggesting a role in cancer development.
Area of Science:
- Oncology
- Genetics
- Molecular Biology
Background:
- Specific chromosomal deletions are linked to pediatric tumor development.
- Tumor suppressor genes at these loci are crucial for tumor genesis.
- Primitive neuroectodermal tumors of the central nervous system are understudied in this context.
Purpose of the Study:
- To investigate allelic deletions in primitive neuroectodermal tumors.
- To identify critical chromosomal regions involved in oncogenesis.
- To assess the role of chromosome 17p in these tumors.
Main Methods:
- Analysis of allelic deletions on chromosomes 1p, 7q, 10, 11p, 13q, and 17p.
- Examination of copy number variations, including c-myc.
- Homozygosity analysis at specific chromosomal locations.
Main Results:
- One tumor showed increased c-myc copies.
- Three patients exhibited reduction to homozygosity at different loci.
- Three of nine informative patients had homozygous deletions on chromosome 17p.
Conclusions:
- Chromosome 17p deletions are significant in primitive neuroectodermal tumors.
- These deletions may play a critical role in the oncogenesis of these tumors.
- Primitive neuroectodermal tumors join a growing list of cancers linked to 17p alterations.