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Periosteal chondroma is a benign cartilage tumor that accounts for &lt;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&gt;TGT), and two carried the mutation IDH1R132L (CGT&gt;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.

oncology letters

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