title: Molecular characterization of the t(4;12)(q27~28;q14~15) chromosomal rearrangement in lipoma.
abstract: Lipomas are common benign soft tissue tumors whose genetic and cytogenetic features are well characterized. The karyotype is usually near- or pseudodiploid with characteristic structural chromosomal aberrations. The most common rearrangements target thehigh mobility group AT-hook 2(HMGA2) gene in 12q14.3, with breakpoints occurring within or outside of the gene locus leading to deregulation ofHMGA2. The most common fusion partner forHMGA2in lipoma islipoma-preferred partner(3q27), but also other genes frequently recombine withHMGA2. Furthermore, truncatedHMGA2transcripts are recurrently observed in lipomas. The present study describes 5 lipomas carrying the translocation t(4;12)(q27~28;q14~15) as the sole chromosomal anomaly, as well as 1 lipoma in which the three-way translocation t(1;4;12)(q21;q27~28;q14~15) was identified. Molecular analyses performed on 4 of these cases detected 4 truncated forms ofHMGA2. In 3 tumors, theHMGA2truncated transcripts included sequences originating from the chromosomal sub-band 4q28.1. Notably, in 2 of these cases, the fourth exon ofHMGA2was fused to transposable elements located in 4q28.1.
authors: Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, NO-0424 Oslo, Norway; Centre for Cancer Biomedicine, Faculty of Medicine, University of Oslo, NO-0316 Oslo, Norway.
authors: Antonio
authors: A
authors: Agostini
authors: Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, NO-0424 Oslo, Norway; Centre for Cancer Biomedicine, Faculty of Medicine, University of Oslo, NO-0316 Oslo, Norway.
authors: Ludmila
authors: L
authors: Gorunova
authors: Department of Pathology, The Norwegian Radium Hospital, Oslo University Hospital, NO-0424 Oslo, Norway.
authors: Bodil
authors: B
authors: Bjerkehagen
authors: Department of Pathology, The Norwegian Radium Hospital, Oslo University Hospital, NO-0424 Oslo, Norway.
authors: Ingvild
authors: I
authors: Lobmaier
authors: Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, NO-0424 Oslo, Norway; Centre for Cancer Biomedicine, Faculty of Medicine, University of Oslo, NO-0316 Oslo, Norway; Faculty of Medicine, University of Oslo, NO-0316 Oslo, Norway.
authors: Sverre
authors: S
authors: Heim
authors: Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, NO-0424 Oslo, Norway; Centre for Cancer Biomedicine, Faculty of Medicine, University of Oslo, NO-0316 Oslo, Norway.
authors: Ioannis
authors: I
authors: Panagopoulos
keywords: HMGA2; lipoma; transposons