Elsevier

Genomics

Volume 8, Issue 2, October 1990, Pages 279-285
Genomics

Deletion mapping of the medulloblastoma locus on chromosome 17p

https://doi.org/10.1016/0888-7543(90)90283-ZGet rights and content

Abstract

Isochromosome 17q has previously been observed consistently in cytogenetic studies of medulloblastoma, the most common posterior fossa neoplasm in children. We performed a restriction fragment length polymorphism (RFLP) investigation of medulloblastoma which showed a loss of chromosome 17p sequences in 45% of these tumors. This finding was predictive of a poor clinical response to treatment. A contiguous panel of markers permitted mapping of the deletion to 17p12-p13.1, the same chromosomal region for which loss of alleles has been shown in tumor specimens from patients with colon cancer, and the same region to which the p53 gene has been mapped. This suggests that medulloblastoma is associated with a recessive oncogene on chromosome 17p that may be involved in the genesis of several embryologically unrelated neoplasms and that the absence of this gene in tumor tissue has prognostic significance.

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      The first insights into the potential clinical application of profiling chromosomal aberrations were reported in 1987, in which a report of 4 children identified aneuploidy as a marker of poor prognosis (38). Subsequent karyotype studies of primary medulloblastomas identified other common chromosomal aberrations such as deletion of 6q, deletion of 16q, isochromosome 17q, and deletion of chromosome 17p (39ā€“44). The presence of the TP53 gene on the short arm of chromosome 17 suggested that this finding was not insignificant, and later studies have suggested that loss of 17p and isochromosome 17q may be negative prognostic markers (45ā€“48).

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