Molecular characterization of the t(4;12)(q27~28;q14~15) chromosomal rearrangement in lipoma

Agostini,Antonio; Gorunova,Ludmila; Bjerkehagen,Bodil; Lobmaier,Ingvild; Heim,Sverre; Panagopoulos,Ioannis

doi:10.3892/ol.2016.4834

Molecular characterization of the t(4;12)(q27~28;q14~15) chromosomal rearrangement in lipoma

Authors:
- Antonio Agostini
- Ludmila Gorunova
- Bodil Bjerkehagen
- Ingvild Lobmaier
- Sverre Heim
- Ioannis Panagopoulos
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Affiliations: Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, NO‑0424 Oslo, Norway, Department of Pathology, The Norwegian Radium Hospital, Oslo University Hospital, NO‑0424 Oslo, Norway
Published online on: July 8, 2016 https://doi.org/10.3892/ol.2016.4834
Pages: 1701-1704
Copyright: © Agostini et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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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 the high mobility group AT‑hook 2 (HMGA2) gene in 12q14.3, with breakpoints occurring within or outside of the gene locus leading to deregulation of HMGA2. The most common fusion partner for HMGA2 in lipoma is lipoma-preferred partner (3q27), but also other genes frequently recombine with HMGA2. Furthermore, truncated HMGA2 transcripts 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 of HMGA2. In 3 tumors, the HMGA2 truncated transcripts included sequences originating from the chromosomal sub‑band 4q28.1. Notably, in 2 of these cases, the fourth exon of HMGA2 was fused to transposable elements located in 4q28.1.

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