Rearrangement of Chromosome Bands 12q14~15 Causing HMGA2-SOX5 Gene Fusion and HMGA2 Expression in Extraskeletal Osteochondroma

Overview

Journal Oncol Rep

Specialty Oncology

Date 2015 Jun 6

PMID 26043835

Citations 21

Authors

Ioannis Panagopoulos

Bodil Bjerkehagen

Ludmila Gorunova

Ingeborg Taksdal

Sverre Heim

Affiliations

Soon will be listed here.

Abstract

We describe two cases of extraskeletal osteochondroma in which chromosome bands 12q14~15 were visibly rearranged through a pericentric inv(12). Molecular analysis of the first tumor showed that both transcript 1 (NM_003483) and transcript 2 (NM_003484) of HMGA2 were expressed. In the second tumor, the inv(12) detected by karyotyping had resulted in an HMGA2-SOX5 fusion transcript in which exons 1-3 of HMGA2 were fused with a sequence from intron 1 of SOX5. The observed pattern is similar to rearrangements of HMGA2 found in several other benign mesenchymal tumors, i.e., disruption of the HMGA2 locus leaves intact exons 1-3 which encode the AT-hook domains and separates them from the 3'-terminal part of the gene. Our data therefore show that a subset of soft tissue osteochondromas shares pathogenetic involvement of HMGA2 with lipomas, leiomyomas and other benign connective tissue neoplasms.

Citing Articles

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A Novel Cryptic t(2;3)(p21;q25) Translocation Fuses the and Genes in Uterine Leiomyoma With 3q- as the Sole Visible Chromosome Abnormality.

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Presence of a t(12;18)(q14;q21) Chromosome Translocation and Fusion of the Genes for High-mobility Group AT-Hook 2 () and WNT Inhibitory Factor 1 () in Infrapatellar Fat Pad Cells from a Patient With Hoffa's Disease.

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Recurrent Fusion of the Genes for High-mobility Group AT-hook 2 () and Nuclear Receptor Co-repressor 2 () in Osteoclastic Giant Cell-rich Tumors of Bone.

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