title: ACVR1 mutations in DIPG: lessons learned from FOP.
abstract: Whole-genome sequencing studies have recently identified a quarter of cases of the rare childhood brainstem tumor diffuse intrinsic pontine glioma to harbor somatic mutations in ACVR1. This gene encodes the type I bone morphogenic protein receptor ALK2, with the residues affected identical to those that, when mutated in the germline, give rise to the congenital malformation syndrome fibrodysplasia ossificans progressiva (FOP), resulting in the transformation of soft tissue into bone. This unexpected link points toward the importance of developmental biology processes in tumorigenesis and provides an extensive experience in mechanistic understanding and drug development hard-won by FOP researchers to pediatric neurooncology. Here, we review the literature in both fields and identify potential areas for collaboration and rapid advancement for patients of both diseases.
authors.affiliation: Division of Molecular Pathology, The Institute of Cancer Research, London, United Kingdom. Division of Cancer Therapeutics, The Institute of Cancer Research, London, United Kingdom.
authors.forename: Kathryn R
authors.initials: KR
authors.lastname: Taylor
authors.affiliation: Division of Molecular Pathology, The Institute of Cancer Research, London, United Kingdom. Division of Cancer Therapeutics, The Institute of Cancer Research, London, United Kingdom.
authors.forename: Maria
authors.initials: M
authors.lastname: Vinci
authors.affiliation: Structural Genomics Consortium, University of Oxford, Oxford, United Kingdom.
authors.forename: Alex N
authors.initials: AN
authors.lastname: Bullock
authors.affiliation: Division of Molecular Pathology, The Institute of Cancer Research, London, United Kingdom. Division of Cancer Therapeutics, The Institute of Cancer Research, London, United Kingdom. chris.jones@icr.ac.uk.
authors.forename: Chris
authors.initials: C
authors.lastname: Jones
mesh_terms: D030201:Activin Receptors, Type I / Q000235:genetics*; D000818:Animals; D020295:Brain Stem Neoplasms / Q000235:genetics* / Q000473:pathology; D002471:Cell Transformation, Neoplastic / Q000235:genetics / Q000473:pathology; D005910:Glioma / Q000235:genetics* / Q000473:pathology; D006801:Humans; D009154:Mutation / Q000235:genetics*; D009221:Myositis Ossificans / Q000235:genetics* / Q000473:pathology
chemical_list: D030201:Activin Receptors, Type I