Recurrent activating ACVR1 mutations in diffuse intrinsic pontine glioma  

Oleh:

Taylor, Kathryn R ; Mackay, Alan ; Truffaux, Nathalene ; Butterfield, Yaron S ; Morozova, Olena

Jenis: Article from Journal - ilmiah internasional
Dalam koleksi: Nature Genetics vol. 46 no. 05 (May 2014), page 457 - 461.

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Nature Genetics | Letter Print Email Share/bookmark ????? Recurrent activating ACVR1 mutations in diffuse intrinsic pontine glioma Kathryn R Taylor, Alan Mackay, Nathalène Truffaux, Yaron S Butterfield, Olena Morozova, Cathy Philippe, David Castel, Catherine S Grasso, Maria Vinci, Diana Carvalho, Angel M Carcaboso, Carmen de Torres, Ofelia Cruz, Jaume Mora, Natacha Entz-Werle, Wendy J Ingram, Michelle Monje, Darren Hargrave, Alex N Bullock, Stéphanie Puget, Stephen Yip, Chris Jones & Jacques Grill Affiliations Contributions Corresponding authors Nature Genetics 46, 457–461 (2014) doi:10.1038/ng.2925 Received 30 April 2013 Accepted 21 February 2014 Published online 06 April 2014 Article tools Full text PDF Citation Reprints Rights & permissions Article metrics Diffuse intrinsic pontine gliomas (DIPGs) are highly infiltrative malignant glial neoplasms of the ventral pons that, due to their location within the brain, are unsuitable for surgical resection and consequently have a universally dismal clinical outcome. The median survival time is 9–12 months, with neither chemotherapeutic nor targeted agents showing substantial survival benefit in clinical trials in children with these tumors1. We report the identification of recurrent activating mutations in the ACVR1 gene, which encodes a type I activin receptor serine/threonine kinase, in 21% of DIPG samples. Strikingly, these somatic mutations (encoding p.Arg206His, p.Arg258Gly, p.Gly328Glu, p.Gly328Val, p.Gly328Trp and p.Gly356Asp substitutions) have not been reported previously in cancer but are identical to mutations found in the germ line of individuals with the congenital childhood developmental disorder fibrodysplasia ossificans progressiva (FOP)2 and have been shown to constitutively activate the BMP–TGF-ß signaling pathway. These mutations represent new targets for therapeutic intervention in this otherwise incurable disease.

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