Recurrent rearrangements of FOS and FOSB define osteoblastoma.
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Authors
Mifsud, William
Ye, Hongtao
Strobl, Anna-Christina
Verfaillie, Annelien
Zhang, Lei
Berisha, Fitim
Tarabichi, Maxime
Young, Matthew D
Miranda, Elena
Tarpey, Patrick S
Tirabosco, Roberto
Amary, Fernanda
Grigoriadis, Agamemnon E
Stratton, Michael R
Antonescu, Cristina R
Campbell, Peter J
Flanagan, Adrienne M
Behjati, Sam
Publication Date
2018-06-01Journal Title
Nat Commun
ISSN
2041-1723
Publisher
Springer Science and Business Media LLC
Volume
9
Issue
1
Pages
2150
Language
eng
Type
Article
Physical Medium
Electronic
Metadata
Show full item recordCitation
Fittall, M. W., Mifsud, W., Pillay, N., Ye, H., Strobl, A., Verfaillie, A., Demeulemeester, J., et al. (2018). Recurrent rearrangements of FOS and FOSB define osteoblastoma.. Nat Commun, 9 (1), 2150. https://doi.org/10.1038/s41467-018-04530-z
Abstract
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.
Keywords
Animals, Humans, Mice, Osteoblastoma, Bone Neoplasms, Proto-Oncogene Proteins c-fos, Gene Rearrangement, Amino Acid Sequence, Base Sequence, Mutation, Adolescent, Adult, Middle Aged, Child, Child, Preschool, Female, Male, Young Adult, Whole Genome Sequencing
Identifiers
External DOI: https://doi.org/10.1038/s41467-018-04530-z
This record's URL: https://www.repository.cam.ac.uk/handle/1810/279884
Rights
Attribution 4.0 International (CC BY 4.0)
Licence URL: https://creativecommons.org/licenses/by/4.0/
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