Mutations in chondroblastoma and giant cell tumour of bone

Abstract

As an extension of the International Cancer Genome Consortium bone tumour project, Sam Behjati and colleagues investigated the histone H3.3 driver mutations in chondroblastoma and giant cell tumour of bone. They noted histone H3.3 alterations in 73 (95%) of 77 cases of chondroblastomas (68 of 73 mutations were in H3F3B and five in H3F3A; all resulted in a p.Lys36Met alteration) and in 49 (92%) of 53 cases of giant cell tumour of bone (48 p.Gly34Trp alteration and one p.Gly34Leu; all mutations in H3F3A). According to Adrienne Flanagan, a senior investigator in this study, “The histone 3.3 mutations in chondroblastoma and giant cell tumour appear to be highly specific and sensitive biomarkers for these tumours, and are the first to be identified for these tumours.” She added that these results also show the importance of sequencing all types of human tumours.