| Summary: | Background: This study aims to investigate isocitrate dehydrogenase gene mutations in patients with the non-hereditary skeletal disorders of Ollier disease and Maffucci syndrome, particularly in the extraosseous tumours. Methods: A total of 16 tumours from three patients with Ollier disease and three patients with Maffucci syndrome were collected. Sanger sequencing was applied to determine the hotspot mutations of <i>IDH1</i> and <i>IDH2</i> genes in multiple neoplastic tissues. Results: A majority of the tumours displayed an <i>IDH1</i> mutation (p.R132C in 11 tumours including the paediatric ovarian tumour from one patient with Ollier disease, 4 cutaneous haemangiomas from three patients with Maffucci syndrome, 5 enchondromas and 1 chondrosarcoma; p.R132H in 2 cartilaginous tumours from one patient). Conclusions: <i>IDH1</i> mutations were demonstrated in multiple cartilaginous tumours and extraskeletal neoplasms in this case series. Specifically, identical <i>IDH1</i> mutations were confirmed in the separate lesions of each patient. These results are in concordance with findings that have been reported. However, here, we additionally reported the first case of Ollier disease with an ovarian tumour, which harboured the identical <i>IDH1</i> mutation with the corresponding cartilaginous tumour. We further provided evidence that <i>IDH</i> mutations are the potential genetic links among the multiple neoplastic lesions of Ollier disease and Maffucci syndrome.
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