Distinct nonrandom patterns of chromosomal deletions in giant-cell lesions of bone

Abstract

Cytogenetic analyses were performed on a bone giant cell reparative granuloma (GCRG) and on three bone giant cell tumors (GCT). The present GCRG case is the second to be described cytogenetically. A modal chromosome number of 46 was observed in all samples. Clonal chromosome abnormalities were detected in all cases. The numerical alterations most frequently observed involved the loss of chromosomes 17 and 18. Among the structural anomalies observed, there was preferential involvement of chromosomes 6 and 10. Three GCT cases presented del(10)(p13) and two cases presented del(6)(q25) (1 GCRG and 1 GCT). These breakpoints mapped on 10p and 6q may harbour genes of importance in the development of bone giant cell tumors.

Analysis of chromosomal imbalances in an elderly woman with a giant cell tumour

“…Several reports concerning bone/cartilage-forming lesions or benign mesenchymal tumours have demonstrated associations with changes on 6q and 12q [1,2]. In addition, gains on 1q, 6q and 12q have been associated with a subgroup of malignant bone fibrous histiocytoma of undifferentiated status, suggesting a possible role of these genomic alterations in GCT [4][5][6].…”

Chromosomal imbalances detected in primary bone tumors by comparative genomic hybridization and interphase fluorescence in situ hybridization

“…Recently, Baruffi et al (2002) reported deletions involving 10p13-pter in three cases of giant-cell bone lesions. There are 66 genes or hypothetical genes mapped to this region (http://cgap.nci.nih.gov/Genes/GeneFinder), including DNMT2 (DNA cytosine-5-methyltransferase 2), located at 10p15.1.…”