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

  • Published online on: June 5, 2015     https://doi.org/10.3892/or.2015.4035
  • Pages: 577-584
  • Copyright: © Panagopoulos et al. This is an open access article distributed under the terms of Creative Commons Attribution License [CC BY_NC 3.0].

Metrics: Total Views: 0 (Spandidos Publications: | PMC Statistics: )
Total PDF Downloads: 0 (Spandidos Publications: | PMC Statistics: )


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.
View Figures
View References

Related Articles

Journal Cover

August-2015
Volume 34 Issue 2

Print ISSN: 1021-335X
Online ISSN:1791-2431

Sign up for eToc alerts

Recommend to Library

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