title: Rearrangements of chromosome bands 15q12-q21 are secondary to HMGA2 deregulation in conventional lipoma.
abstract: Rearrangements of chromosome arm 15q are rare but recurrent in conventional lipomas, a tumor type often showing deregulated expression of the HMGA2 gene. In order to assess whether 15q rearrangements could constitute a distinct pathogenetic mechanism, we studied seven cases of conventional lipoma that at G-banding analysis had various rearrangements of 15q12-q21. The breakpoints in 15q were mapped by fluorescence in situ hybridization (FISH) and single nucleotide polymorphism array analyses, and the status of the HMGA2 gene was evaluated by FISH and/or quantitative PCR. We found an overlapping deletion on 15q in two cases, but no recurring breakpoint among the other cases. In addition, all cases displayed rearrangement of HMGA2 at the genomic or the transcriptional level. Although 15q rearrangements sometimes are noted as the sole aberration at cytogenetic analysis of conventional lipomas, they are secondary to HMGA2 deregulation.
authors.affiliation: Department of Clinical Genetics, University and Regional Laboratories, Skåne University Hospital, Lund University, SE-221 85 Lund, Sweden.
authors.forename: Gemma
authors.initials: G
authors.lastname: Macchia
authors.affiliation: Department of Clinical Genetics, University and Regional Laboratories, Skåne University Hospital, Lund University, SE-221 85 Lund, Sweden.
authors.forename: Karolin H
authors.initials: KH
authors.lastname: Nord
authors.affiliation: Department of Biology, University of Bari, I-70125 Bari, Italy.
authors.forename: Giuseppina
authors.initials: G
authors.lastname: D'Alessandro
authors.affiliation: Department of Clinical Genetics, University and Regional Laboratories, Skåne University Hospital, Lund University, SE-221 85 Lund, Sweden.
authors.forename: Jenny
authors.initials: J
authors.lastname: Nilsson
authors.affiliation: Department of Clinical Genetics, University and Regional Laboratories, Skåne University Hospital, Lund University, SE-221 85 Lund, Sweden.
authors.forename: Linda
authors.initials: L
authors.lastname: Magnusson
authors.affiliation: Department of Clinical Genetics, University and Regional Laboratories, Skåne University Hospital, Lund University, SE-221 85 Lund, Sweden.
authors.forename: Nils
authors.initials: N
authors.lastname: Mandahl
authors.affiliation: Department of Biology, University of Bari, I-70125 Bari, Italy.
authors.forename: Clelia Tiziana
authors.initials: CT
authors.lastname: Storlazzi
authors.affiliation: Department of Clinical Genetics, University and Regional Laboratories, Skåne University Hospital, Lund University, SE-221 85 Lund, Sweden.
authors.forename: Fredrik
authors.initials: F
authors.lastname: Mertens
mesh_terms: D000328:Adult; D000368:Aged; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D025743:HMGA2 Protein / Q000096:biosynthesis / Q000235:genetics*; D006801:Humans; D059785:Karyotype; D008067:Lipoma / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D014178:Translocation, Genetic / Q000235:genetics*
chemical_list: D025743:HMGA2 Protein