Recurrent 12q13-15 chromosomal aberrations, high frequency of isocitrate dehydrogenase 1 mutations, and absence of high mobility group AT-hook 2 expression in periosteal chondromas

Panagopoulos,Ioannis; Gorunova,Ludmila; Taksdal,Ingeborg; Bjerkehagen,Bodil; Heim,Sverre

doi:10.3892/ol.2015.3197

Recurrent 12q13-15 chromosomal aberrations, high frequency of isocitrate dehydrogenase 1 mutations, and absence of high mobility group AT-hook 2 expression in periosteal chondromas

Authors:
- Ioannis Panagopoulos
- Ludmila Gorunova
- Ingeborg Taksdal
- Bodil Bjerkehagen
- Sverre Heim
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Affiliations: Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo 0424, Norway, Department of Radiology and Nuclear Medicine, The Norwegian Radium Hospital, Oslo University Hospital, Oslo 0424, Norway, Department of Pathology, The Norwegian Radium Hospital, Oslo University Hospital, Oslo 0424, Norway
Published online on: May 11, 2015 https://doi.org/10.3892/ol.2015.3197
Pages: 163-167
Copyright: © Panagopoulos et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

Periosteal chondroma is a benign cartilage tumor that accounts for <2% of chondromas. In the present study, four cases of periosteal chondromas were cytogenetically investigated and studied for the expression of high‑mobility group AT‑hook 2 (HMGA2), mutations in codons 132 of isocitrate dehydrogenase (IDH)1 and 172 of IDH2; mutations ‑C228T and ‑C250T in the promoter region of telomerase reverse transcriptase (TERT); and for methylation in the promoter regions of O‑6‑methylguanine‑DNA methyltransferase (MGMT) and cellular retinol binding protein 1 (CRBP1). Chromosome aberrations of 12q13‑15 were found in two out of the four tumors, while two had a normal karyotype. Two periosteal chondromas carried the mutation IDH1R132C (CGT>TGT), and two carried the mutation IDH1R132L (CGT>CTT). However, none of the four tumors had methylated MGMT and CRBP1 promoters or mutations at codon 172 of IDH2. In addition, ‑C228T and ‑C250T mutations were not present in the promoter region of TERT, nor was HMGA2 demonstrated to be expressed. The present study indicated that in periosteal chondromas, the involvement of 12q13‑15 in structural rearrangements may be recurrent but that HMGA2 is not expressed. Additionally, the periosteal chondromas investigated in the study carried a heterozygous IDH1R132 mutation, the MGMT and CRBP1 promoters were not methylated, and -C228T and -C250T mutations in the promoter region of TERT were absent.

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