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Article Open Access

Rearrangement of chromosome bands 12q14~15 causing HMGA2-SOX5 gene fusion and HMGA2 expression in extraskeletal osteochondroma

  • Authors:
    • Ioannis Panagopoulos
    • Bodil Bjerkehagen
    • Ludmila Gorunova
    • Ingeborg Taksdal
    • Sverre Heim
  • View Affiliations / Copyright

    Affiliations: Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway, Department of Pathology, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway, Department of Radiology, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway
    Copyright: © Panagopoulos et al. This is an open access article distributed under the terms of Creative Commons Attribution License [CC BY_NC 3.0].
  • Pages: 577-584
    |
    Published online on: June 5, 2015
       https://doi.org/10.3892/or.2015.4035
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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.
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Copy and paste a formatted citation
Spandidos Publications style
Panagopoulos I, Bjerkehagen B, Gorunova L, Taksdal I and Heim S: Rearrangement of chromosome bands 12q14~15 causing HMGA2-SOX5 gene fusion and HMGA2 expression in extraskeletal osteochondroma. Oncol Rep 34: 577-584, 2015.
APA
Panagopoulos, I., Bjerkehagen, B., Gorunova, L., Taksdal, I., & Heim, S. (2015). Rearrangement of chromosome bands 12q14~15 causing HMGA2-SOX5 gene fusion and HMGA2 expression in extraskeletal osteochondroma. Oncology Reports, 34, 577-584. https://doi.org/10.3892/or.2015.4035
MLA
Panagopoulos, I., Bjerkehagen, B., Gorunova, L., Taksdal, I., Heim, S."Rearrangement of chromosome bands 12q14~15 causing HMGA2-SOX5 gene fusion and HMGA2 expression in extraskeletal osteochondroma". Oncology Reports 34.2 (2015): 577-584.
Chicago
Panagopoulos, I., Bjerkehagen, B., Gorunova, L., Taksdal, I., Heim, S."Rearrangement of chromosome bands 12q14~15 causing HMGA2-SOX5 gene fusion and HMGA2 expression in extraskeletal osteochondroma". Oncology Reports 34, no. 2 (2015): 577-584. https://doi.org/10.3892/or.2015.4035
Copy and paste a formatted citation
x
Spandidos Publications style
Panagopoulos I, Bjerkehagen B, Gorunova L, Taksdal I and Heim S: Rearrangement of chromosome bands 12q14~15 causing HMGA2-SOX5 gene fusion and HMGA2 expression in extraskeletal osteochondroma. Oncol Rep 34: 577-584, 2015.
APA
Panagopoulos, I., Bjerkehagen, B., Gorunova, L., Taksdal, I., & Heim, S. (2015). Rearrangement of chromosome bands 12q14~15 causing HMGA2-SOX5 gene fusion and HMGA2 expression in extraskeletal osteochondroma. Oncology Reports, 34, 577-584. https://doi.org/10.3892/or.2015.4035
MLA
Panagopoulos, I., Bjerkehagen, B., Gorunova, L., Taksdal, I., Heim, S."Rearrangement of chromosome bands 12q14~15 causing HMGA2-SOX5 gene fusion and HMGA2 expression in extraskeletal osteochondroma". Oncology Reports 34.2 (2015): 577-584.
Chicago
Panagopoulos, I., Bjerkehagen, B., Gorunova, L., Taksdal, I., Heim, S."Rearrangement of chromosome bands 12q14~15 causing HMGA2-SOX5 gene fusion and HMGA2 expression in extraskeletal osteochondroma". Oncology Reports 34, no. 2 (2015): 577-584. https://doi.org/10.3892/or.2015.4035
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