Rearrangements of chromosome bands 15q12-q21 are secondary to HMGA2 deregulation in conventional lipoma

Macchia,Gemma; Nord,Karolin H.; D'Alessandro,Giuseppina; Nilsson,Jenny; Magnusson,Linda; Mandahl,Nils; Storlazzi,Clelia Tiziana; Mertens,Fredrik

doi:10.3892/or.2013.2889

Rearrangements of chromosome bands 15q12-q21 are secondary to HMGA2 deregulation in conventional lipoma

Authors:
- Gemma Macchia
- Karolin H. Nord
- Giuseppina D'Alessandro
- Jenny Nilsson
- Linda Magnusson
- Nils Mandahl
- Clelia Tiziana Storlazzi
- Fredrik Mertens
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Affiliations: Department of Clinical Genetics, University and Regional Laboratories, Skåne University Hospital, Lund University, SE-221 85 Lund, Sweden, Department of Biology, University of Bari, I-70125 Bari, Italy
Published online on: December 2, 2013 https://doi.org/10.3892/or.2013.2889
Pages: 807-811

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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.

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1	Rydholm A and Berg NO: Size, site and clinical incidence of lipoma. Factors in the differential diagnosis of lipoma and sarcoma. Acta Orthop Scand. 54:929–934. 1983. View Article : Google Scholar : PubMed/NCBI
2	Nielsen GP and Mandahl N: Lipoma. WHO Classification of Tumours of Soft Tissue and Bone. Fletcher CDM, Bridge JA, Hogendoorn PCW and Mertens F: IARC Press; Lyon: pp. 20–21. 2013
3	Colella G, Biondi P, Caltabiano R, Vecchio GM, Amico P and Magro G: Giant intramuscular lipoma of the tongue: a case report and literature review. Cases J. 2:79062009. View Article : Google Scholar : PubMed/NCBI
4	Billing V, Mertens F, Domanski HA and Rydholm A: Deep-seated ordinary and atypical lipomas: histopathology, cytogenetics, clinical features, and outcome in 215 tumours of the extremity and trunk wall. J Bone Joint Surg Br. 90:929–933. 2008. View Article : Google Scholar
5	Bartuma H, Hallor KH, Panagopoulos I, et al: Assessment of the clinical and molecular impact of different cytogenetic subgroups in a series of 272 lipomas with abnormal karyotype. Genes Chromosomes Cancer. 46:594–606. 2007. View Article : Google Scholar
6	Mandahl N, Bartuma H, Magnusson L, Isaksson M, Macchia G and Mertens F: HMGA2 and MDM2 expression in lipomatous tumors with partial, low-level amplification of sequences from the long arm of chromosome 12. Cancer Genet. 204:550–556. 2011. View Article : Google Scholar
7	Nishio J: Contributions of cytogenetics and molecular cytogenetics to the diagnosis of adipocytic tumors. J Biomed Biotechnol. 2011:5240672011. View Article : Google Scholar : PubMed/NCBI
8	Iafrate AJ, Feuk L, Rivera MN, et al: Detection of large-scale variation in the human genome. Nat Genet. 36:949–951. 2004. View Article : Google Scholar : PubMed/NCBI
9	Nord KH, Magnusson L, Isaksson M, et al: Concomitant deletions of tumor suppressor genes MEN1 and AIP are essential for the pathogenesis of the brown fat tumor hibernoma. Proc Natl Acad Sci USA. 107:21122–21127. 2010. View Article : Google Scholar : PubMed/NCBI
10	Jin Y, Möller E, Nord KH, et al: Fusion of the AHRR and NCOA2 genes through a recurrent translocation t(5;8)(p15;q13) in soft tissue angiofibroma results in upregulation of aryl hydrocarbon receptor target genes. Genes Chromosomes Cancer. 51:510–520. 2012.
11	Bartuma H, Panagopoulos I, Collin A, et al: Expression levels of HMGA2 in adipocytic tumors correlate with morphologic and cytogenetic subgroups. Mol Cancer. 8:362009.
12	Hata S, Emi Y, Iyanagi T and Osumi T: cDNA cloning of a putative G protein-coupled receptor from brain. Biochim Biophys Acta. 1261:121–125. 1995. View Article : Google Scholar : PubMed/NCBI
13	Berlanga JJ, Santoyo J and De Haro C: Characterization of a mammalian homolog of the GCN2 eukaryotic initiation factor 2α kinase. Eur J Biochem. 265:754–762. 1999.PubMed/NCBI