Recurrent rearrangements of FOS and FOSB define osteoblastoma

Matthew Fittall, W Mifsud, N Pillay, H Ye, AC Strobl, L Zhang, F Berisha, A Verfaillie, J Demeulemeester, M Tarabichi, MD Young, E Miranda, PS Tarpey, R Tirabosco, F Amary, Agamemnon Emil Grigoriadis, MR Stratton, P Van Loo, CR Antonescu, PJ CampbellAM Flanagan, S Behjati

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107 Citations (Scopus)


The transcription factor FOS has long been implicated in the pathogenesis of bone tumours, following the discovery that the viral homologue, v-fos, caused osteosarcoma in laboratory mice. However, mutations of FOS have not been found in human bone-forming tumours. Here, we report recurrent rearrangement of FOS and its paralogue, FOSB, in the most common benign tumours of bone, osteoblastoma and osteoid osteoma. Combining whole-genome DNA and RNA sequences, we find rearrangement of FOS in five tumours and of FOSB in one tumour. Extending our findings into a cohort of 55 cases, using FISH and immunohistochemistry, provide evidence of ubiquitous mutation of FOS or FOSB in osteoblastoma and osteoid osteoma. Overall, our findings reveal a human bone tumour defined by mutations of FOS and FOSB.
Original languageEnglish
Article number2150
JournalNature Communications
Early online date1 Jun 2018
Publication statusPublished - 3 Jun 2018


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