Sarcomas are rare tumours, but have contributed disproportionally to the understanding of cancer mechanisms, starting with the first, Nobel-awarded oncogene Src, and being the origin of more oncogenes than all other solid tumours together. By sequencing various rare sarcoma subtypes, fascinating new preferentially mutated genes are being revealed, which tells us about diverse mechanism of transformation.
In the current paper in Nature Genetics (journal impact factor 35.21), co-authored by Ola Myklebost (photo), striking enrichments of mutations of Histone 3.3 were discovered.
Why would such a generally important protein, being target for numerous epigenetic marks, be mutated in such a rare tumor? As always, revealing details about cancer poses numerous new questions.
This work is a spin-off of the participation of the Myklebost group in the Bone Cancer Genome Project, one of the projects run by the International Cancer Genomics Consortium. Ola Myklebost's group is a major partner for the project on osteosarcomas, and these data were compared with chondroblastomas in the current paper.
Distinct H3F3A and H3F3B driver mutations define chondroblastoma and giant cell tumor of bone.
Behjati S, Tarpey PS, Presneau N, Scheipl S, Pillay N, Van Loo P, Wedge DC, Cooke SL, Gundem G, Davies H, Nik-Zainal S, Martin S, McLaren S, Goodie V, Robinson B, Butler A, Teague JW, Halai D, Khatri B, Myklebost O, Baumhoer D, Jundt G, Hamoudi R, Tirabosco R, Amary MF, Futreal PA, Stratton MR, Campbell PJ, Flanagan AM.
Nat Genet. 2013 Oct 27. doi: 10.1038/ng.2814. [Epub ahead of print]