Recurrent activating ACVR1 mutations in diffuse intrinsic pontine glioma

Nature Genetics

Volumn 46, Issue 5, 2014, Pages 457-461

  Taylor, Kathryn R ^a   Mackay, Alan ^a   Truffaux, Nathalène ^b   Butterfield, Yaron S ^c   Morozova, Olena ^d   Philippe, Cathy ^b   Castel, David ^b   Grasso, Catherine S ^e   Vinci, Maria ^a   Carvalho, Diana ^a   Carcaboso, Angel M ^f   De Torres, Carmen ^f   Cruz, Ofelia ^f   Mora, Jaume ^f   Entz Werle, Natacha ^g   Ingram, Wendy J ^h   Monje, Michelle ⁱ   Hargrave, Darren ^j   Bullock, Alex N ^k   Puget, Stéphanie ^l   Yip, Stephen ^c   Jones, Chris ^a   Grill, Jacques ^b   more..

^a INSTITUTE OF CANCER RESEARCH   (United Kingdom)

^b France   (France)

^c BRITISH COLUMBIA CANCER AGENCY   (Canada)

^d University of California Santa Cruz   (United States)

^e OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^f HOSPITAL SANT JOAN DE DÉU   (Spain)

^g UNIVERSITY HOSPITAL OF STRASBOURG   (France)

^h UNIVERSITY OF QUEENSLAND   (Australia)

ⁱ STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^j GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^k UNIVERSITY OF OXFORD   (United Kingdom)

^l Necker Sick Children's Hospital   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ACTIVIN RECEPTOR 1; BONE MORPHOGENETIC PROTEIN; MITOGEN ACTIVATED PROTEIN KINASE; PHOSPHATIDYLINOSITOL 3 KINASE; SMAD1 PROTEIN; SMAD5 PROTEIN; SMAD8 PROTEIN; TRANSFORMING GROWTH FACTOR BETA; PROTEIN SERINE THREONINE KINASE;

ARTICLE; ASTROCYTOMA; CANCER SURVIVAL; CELL VIABILITY; CHILDHOOD CANCER; CLINICAL FEATURE; CYTOTOXICITY; FIBRODYSPLASIA OSSIFICANS PROGRESSIVA; GLIOBLASTOMA; HUMAN; IN VITRO STUDY; LIGAND BINDING; NONHUMAN; OSSIFYING MYOSITIS; OVERALL SURVIVAL; PONTINE GLIOMA; PRIMARY CULTURE; PRIORITY JOURNAL; SIGNAL TRANSDUCTION; SOMATIC MUTATION; SURVIVAL TIME; AMINO ACID SUBSTITUTION; CANCER CHEMOTHERAPY; CLINICAL ARTICLE; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; FEMALE; GENE IDENTIFICATION; GENE MUTATION; GERM LINE; HUMAN CELL; MALE; OUTCOME ASSESSMENT;

ACTIVIN RECEPTORS, TYPE I; BASE SEQUENCE; BRAIN STEM NEOPLASMS; CHILD; COHORT STUDIES; EXOME; GENE EXPRESSION REGULATION, NEOPLASTIC; GENOME, HUMAN; GLIOMA; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; MYOSITIS OSSIFICANS; SEQUENCE ANALYSIS, DNA; SIGNAL TRANSDUCTION;

EID: 84899559895     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.2925     Document Type: Article

References (20)

1. Jones, C., Perryman, L. & Hargrave, D. Paediatric and adult malignant glioma: close relatives or distant cousins? Nat. Rev. Clin. Oncol. 9, 400-413 (2012).
2. Katagiri, T. Recent topics in fibrodysplasia ossificans progressiva. J. Oral Biosciences 54, 119-123 (2012).
3. Wu, G. et al. Somatic histone H3 alterations in pediatric diffuse intrinsic pontine gliomas and non-brainstem glioblastomas. Nat. Genet. 44, 251-253 (2012).
4. Lewis, P.W. et al. Inhibition of PRC2 activity by a gain-of-function H3 H3 mutation found in pediatric glioblastoma. Science 340, 857-861 (2013).
5. Roujeau, T. et al. Stereotactic biopsy of diffuse pontine lesions in children. J. Neurosurg. 107, 1-4 (2007).
6. Schwartzentruber, J. et al. Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma. Nature 482, 226-231 (2012).
7. Puget, S. et al. Mesenchymal transition and PDGFRA amplification/mutation are key distinct oncogenic events in pediatric diffuse intrinsic pontine gliomas. PLoS ONE 7, e30313 (2012).
8. Paugh, B.S. et al. Genome-wide analyses identify recurrent amplifications of receptor tyrosine kinases and cell-cycle regulatory genes in diffuse intrinsic pontine glioma. J. Clin. Oncol. 29, 3999-4006 (2011).
9. Forbes, S.A. et al. COSMIC: mining complete cancer genomes in the Catalogue of Somatic Mutations in Cancer. Nucleic Acids Res. 39, D945-D950 (2011).
10. Shore, E.M. & Kaplan, F.S. Inherited human diseases of heterotopic bone formation. Nat. Rev. Rheumatol. 6, 518-527 (2010).
11. Shore, E.M. et al. A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva. Nat. Genet. 38, 525-527 (2006).
12. Bocciardi, R., Bordo, D., Di Duca, M., Di Rocco, M. & Ravazzolo, R. Mutational analysis of the ACVR1 gene in Italian patients affected with fibrodysplasia ossificans progressiva: confirmations and advancements. Eur. J. Hum. Genet. 17, 311-318 (2009).
13. Petrie, K.A. et al. Novel mutations in ACVR1 result in atypical features in two fibrodysplasia ossificans progressiva patients. PLoS ONE 4, e5005 (2009).
14. Fukuda, T. et al. A unique mutation of ALK2, G356D, found in a patient with fibrodysplasia ossificans progressiva is a moderately activated BMP type I receptor. Biochem. Biophys. Res. Commun. 377, 905-909 (2008).
15. Kaplan, F.S. et al. Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1. Hum. Mutat. 30, 379-390 (2009).
16. Chaikuad, A. et al. Structure of the bone morphogenetic protein receptor ALK2 and implications for fibrodysplasia ossificans progressiva. J. Biol. Chem. 287, 36990-36998 (2012).
17. Yu, P.B. et al. BMP type I receptor inhibition reduces heterotopic ossification. Nat. Med. 14, 1363-1369 (2008).
18. Tumolo, M., Moscatelli, A. & Silvestri, G. Anaesthetic management of a child with fibrodysplasia ossificans progressiva. Br. J. Anaesth. 97, 701-703 (2006).
19. Kan, L. et al. CNS demyelination in fibrodysplasia ossificans progressiva. J. Neurol. 259, 2644-2655 (2012).
20. Yu, P.B. et al. Dorsomorphin inhibits BMP signals required for embryogenesis and iron metabolism. Nat. Chem. Biol. 4, 33-41 (2008).