Frequent homozygous deletion of cyclin-dependent kinase inhibitor 2 (MTSI, p16) in superficial bladder cancer detected by fluorescence in situ hybridization

Margit Balázs, Peter Carroll, Russell Kerschmann, Guido Sauter, Frederic M. Waldman

Research output: Contribution to journalReview article

51 Citations (Scopus)

Abstract

Deletion of all or part of chromosome 9 is a well-described genetic alteration in bladder tumors. It has been proposed that inactivation of a tumor-suppressor gene on chromosome 9 is an important event in tumor development. Recent reports have supported cyclin-dependent kinase inhibitor 2 (CDKN2, also known as MTSI, INK4, p16) at 9p21 as a candidate tumorsuppressor gene in solid tumors. However, the prevalence of CDKN2 mutations in primary bladder tumors has been controversial. Therefore, we applied gene-specific probes for CDKN2 and the interferon alpha gene (IFNA), also located at 9p21, to characterize further the genomic deletions at this locus in bladder cancer. Seventeen superficial (pTa or pTI) bladder tumor specimens were examined for gene deletion by fluorescence in situ hybridization. Dual-labeling hybridization with a repetitive pericentromeric probe for chromosome 9 and a gene-specific probe for CDKN2 was performed to characterize the gene copy number in relation to the chromosome 9 copy number on a cell-by-cell basis. Homozygous deletion for CDKN2 without homozygous IFNA deletion was found in 5 of 17 tumors tested. Both genes were deleted in one additional case, and one tumor showed deletion of IFNA without deletion of CDKN2. Homozygous deletion at the 9p21 locus was found only in tumors having monosomy for the chromosome 9 centrorneric signal. These results indicate that the homozygous deletion of the CDKN2 gene is a frequent and early event in superficial bladder cancer.

Original languageEnglish
Pages (from-to)84-89
Number of pages6
JournalGenes Chromosomes and Cancer
Volume19
Issue number2
DOIs
Publication statusPublished - Jun 14 1997

ASJC Scopus subject areas

  • Genetics
  • Cancer Research

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