Recurrent activating ACVR1 mutations in diffuse intrinsic pontine glioma.

Conference item

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 tumors. We report the identification of recurrent activating mutations...

Expand abstract

Authors: Taylor, K; Mackay, A; Truffaux, N; Butterfield, Y; Morozova, O

• Publication status: Published
• Host title: Nature genetics
• Volume: 46
• Issue: 5
• Pages: 457-461
• Publication date: 2014-05-01
• Event location: United States
• DOI: 10.1038/ng.2925
• EISSN: 1546-1718
• ISSN: 1061-4036
• Keywords: Humans; Signal Transduction; Glioma; Myositis Ossificans; Sequence Analysis, DNA; Base Sequence; Cohort Studies; Molecular Sequence Data; Mutation, Missense; Genome, Human; Activin Receptors, Type I; Exome; Child; Brain Stem Neoplasms; Gene Expression Regulation, Neoplastic