par Fittall, Matthew W;Mifsud, William;Pillay, Nischalan;Ye, Hongtao;Strobl, Anna-Christina;Verfaillie, Annelien;Demeulemeester, Jonas;Zhang, Lei;Berisha, Fitim;Tarabichi, Maxime
;Young, Matthew D;Miranda, Elena;Tarpey, Patrick S;Tirabosco, Roberto;Amary, Fernanda;Grigoriadis, Agamemnon AE;Stratton, Michael R;Van Loo, Peter;Antonescu, Cristina CR;Campbell, Peter J;Flanagan, Adrienne M;Behjati, Sam
Référence Nature communications, 9, 1, page (2150)
Publication Publié, 2018-02-01

Référence Nature communications, 9, 1, page (2150)
Publication Publié, 2018-02-01
Article révisé par les pairs
Résumé : | 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. |