
doi: 10.1159/000087514
Chromosome segment 12q13→q15 recombines with many different chromosome bands in lipomas and at least ten recurrent translocations have been identified. The <i>HMGA2</i> gene is often rearranged, but little is known about the molecular consequences at other breakpoints. Fusion genes between <i>HMGA2</i> (12q14→q15) and <i>LPP</i> (3q27→q28), <i>LHFP</i> (13q12) and <i>CMKOR1</i> (2q37) have been reported. In the present study, eight lipomas with rearrangements involving chromosome bands 12q14→q15 and 5q32→q33 were analyzed. In chromosome 5, five of the cases had a breakpoint in the 5′ part of <i>EBF</i> in 5q33, while three cases had breakpoints located about 200 kb 3′ of <i>EBF</i>. In chromosome 12, the breakpoints clustered to the region of <i>HMGA2</i>. Four cases had breaks within the gene and four had breaks 5′ to <i>HMGA2</i> where the gene <i>BC058822</i> is located. Two versions of an <i>HMGA2/EBF</i> fusion transcript were detected in one case; one transcript was in frame and the other out of frame. Identical <i>EBF/BC058822</i> fusion transcripts, seen in two cases, one of which also had the <i>HMGA2/EBF</i> transcript, were out of frame and resulted in truncation of <i>EBF</i>. Since <i>EBF</i> and <i>HMGA2</i> have different orientations, the findings must be explained by complex aberrations including multiple breaks. The combined data indicate that the pathogenetically significant event is fusion, truncation or transcriptional activation of <i>HMGA2,</i> but it can not be excluded that <i>EBF</i>, which has been implicated in adipogenesis, contributes to the tumor development.
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