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Article Abstract
Aims: Glioma-associated oncogene homologue 1 () was recently shown to be coamplified with mouse double minute 2 (), cyclin-dependent kinase 4 () and some other adjacent genes in a significant subset of -altered mesenchymal tumours and well-differentiated/dedifferentiated liposarcomas, which are characterised by amplification. Given that is also amplified in low-grade osteosarcoma (LGOS), we investigated the prevalence of amplifications/fusions in a series of 15 cases of -amplified LGOS, an area that has not been previously explored.
Methods: This study conducted a retrospective analysis and examined amplifications/fusions in 15 cases of -amplified LGOS and 46 cases of other bone tumours and tumour-like lesions using fluorescence in situ hybridisation with a amplification probe and a break-apart probe. Six cases of LGOS were also tested by next-generation sequencing.
Results: Fluorescence in situ hybridisation analysis revealed that 13 of 15 (87%) LGOS cases exhibited amplification; no fusion gene was found. Next-generation sequencing revealed that all six tested cases showed amplification and one case had both amplification and gene fusion (). All 46 cases of other bone tumours and tumour-like lesions were negative for amplification and fusion.
Conclusion: These results indicate that amplification is common in LGOS, and fusion could occur in LGOS.
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| http://dx.doi.org/10.1136/jcp-2024-209813 | DOI Listing |
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