Chrondoblastoma (CB) and giant cell tumour of bone (GCT) are rare benign bone tumours that rarely metastasize (around 2% of GCT metastasize to the lung) but very often locally recur. These tumours can be sometimes difficult to distinguish from malignant bone tumours. Recently we identified highly specific mutation in two histone genes H3F3A and H3F3B located on two different chromosomes (chr1 and chr17 respectively) but coding for a very similar protein in those tumours. Ninety-five per cent of CB were found to be mutated in H3F3A as residue G34 (Behjati S, Tarpey P, Presneau N et al., 2013). We have recently investigated a larger set of giant cell tumours and several morphologic mimics including aneurysmal bone cysts, non-ossifying fibromas, giant cell granulomas of the jaws and of small tubular bones as well as giant cell-rich malignant tumours to evaluate the sensitivity and specificity of these H3F3 driver mutations.
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University of Westminster, School of Life Sciences, 115 New Cavendish Street London W1W 6UW
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