Fusion of the COL1A1 and USP6 genes in a benign bone tumor.

Summary, in English

Aneurysmal bone cyst (ABC) is a benign intraskeletal cyst that often expands rapidly and shows a strong tendency to recur. Rearrangement of chromosome band 17p13 is a characteristic genetic feature of ABC, with t(16;17)(q22;p13) the most frequent chromosomal aberration. This translocation generates a CDH11-USP6 fusion gene in which the strong promoter of osteoblast cadherin 11 gene at 16q22 is fused to the entire ubiquitin-specific protease 6 coding sequence at 17p13. As a result, USP6 (alias Tre2) is transcriptionally upregulated. Fusion genes of several variant translocations have been reported in ABC, including a case with t(17;17) and COL1A1-USP6 fusion. In each translocation, the entire USP6 coding sequence is fused downstream to the promoter region of the partner gene. Here we report a second case of a bone tumor carrying a t(17;17) resulting in a COL1A1-USP6 chimeric gene. As in the previous case, exon 1 of COL1A1 was fused to exon 2 of USP6 in the chimeric transcript. A translation process of the hybrid transcript using the starting ATG codon of the COL1A1 gene results in a truncated, 38 amino acid residues variant of the COL1A1 peptide. Although a pathogenic effect of the small COL1A1 peptide cannot be ruled out, overexpression of USP6 through fusion with the COL1A1 promoter is a more reasonable hypothesis.

• Author: Ioannis Panagopoulos; Fredrik Mertens; Richard Löfvenberg; Nils Mandahl
• Department/s: Division of Clinical Genetics
• Publishing year: 2008
• Language: English
• Pages: 70-73
• Publication/Series: Cancer Genetics and Cytogenetics
• Volume: 180
• Issue: 1
• Links: http://www.ncbi.nlm.nih.gov/pubmed/18068538?dopt=Abstract; http://dx.doi.org/10.1016/j.cancergencyto.2007.09.017
• Document type: Journal article
• Publisher: Elsevier
• Topic: Medical Genetics
• Status: Published
• ISBN/ISSN/Other: ISSN: 0165-4608