Novel DNA copy number losses in chromosome 12q12-q13 in adenoid cystic carcinoma

Wa'el El-Rifai*, Sue Rutherford, Sakari Knuutila, Henry F. Frierson, Christopher A. Moskaluk

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

37 Scopus citations


In order to find common genetic abnormalities that may identify loci of genes involved in the development of adenoid cystic carcinoma (ACC), we investigated DNA copy number changes in 24 of these tumors by comparative genomic hybridization (CGH). Our results indicate that unlike many carcinomas, ACCs have relatively few changes in DNA copy number overall. Twenty tumors had DNA copy number changes, which were mostly restricted to a few chromosomal arms. A frequent novel finding was the loss of DNA copy number in chromosome 12q (eight tumors, 33%) with the minimal common overlapping region at 12q12-q13. Deletion in this region has not been reported to be frequent in other types of cancer analyzed by CGH. In addition, deletions in 6q23-qter and 13q21-q22 and gains of chromosome 19 were observed in 25% to 38% of ACCs. Deletion of 19q, previously reported in a small series of ACC, was not identified in the current group of carcinomas. The current CGH results for chromosomes 12 and 19 were confirmed by microsatellite allelotyping. These results indicate that DNA copy number losses in 12q may be important in the oncogenesis of ACC and suggest that the 12q12-q13 region may harbor a new tumor-suppressor gene.

Original languageEnglish
Pages (from-to)173-178
Number of pages6
Issue number3
StatePublished - 2001
Externally publishedYes


  • Adenoid cystic carcinoma
  • Comparative genomic hybridization
  • Genetic deletion
  • Loss of heterozygosity
  • Microsatellite markers


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