Clinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statement
Year: 2018
Type: review
Abstract: Beckwith-Wiedemann syndrome (BWS), a human genomic imprinting disorder, is characterized by phenotypic variability that might include overgrowth, macroglossia, abdominal wall defects, neonatal hypoglycaemia, lateralized overgrowth and predisposition to embryonal tumours. Delineation of the molecular defects within the imprinted 11p15.5 region can predict familial recurrence risks and the risk (and type) of embryonal tumour. Despite recent advances in knowledge, there is marked heterogeneity in clinical diagnostic criteria and care. As detailed in this Consensus Statement, an international consensus group agreed upon 72 recommendations for the clinical and molecular diagnosis and management of BWS, including comprehensive protocols for the molecular investigation, care and treatment of patients from the prenatal period to adulthood. The consensus recommendations apply to patients with Beckwith-Wiedemann spectrum (BWSp), covering classical BWS without a molecular diagnosis and BWS-related phenotypes with an 11p15.5 molecular anomaly. Although the consensus group recommends a tumour surveillance programme targeted by molecular subgroups, surveillance might differ according to the local health-care system (for example, in the United States), and the results of targeted and universal surveillance should be evaluated prospectively. International collaboration, including a prospective audit of the results of implementing these consensus recommendations, is required to expand the evidence base for the design of optimum care pathways.
Source: Nature Reviews Endocrinology
Authors: Frédéric Brioude, Jennifer M. Kalish, Alessandro Mussa, Alison C. Foster, Jet Bliek, Giovanni Battista Ferrero, Susanne E. Boonen, Trevor Cole, Robert Baker, Monica Bertoletti, Guido Cocchi, Carole Coze, Maurizio De Pellegrin, Khalid Hussain, Abdulla Ibrahim, Mark D. Kilby, Malgorzata Krajewska-Walasek, Christian P. Kratz, Edmund J. Ladusans, Pablo Lapunzina, Yves Le Bouc, Saskia M. Maas, Fiona Macdonald, Katrin Õunap, Licia Peruzzi, Sylvie Rossignol, Silvia Russo, Caroleen Shipster, Agata Skórka, Katrina Tatton-Brown, Jair Tenorio, Chiara Tortora, Karen Grønskov, Irène Netchine, Raoul C. Hennekam, Dirk Prawitt, Zeynep Tümer, Thomas Eggermann, Deborah J. G. Mackay, Andrea Riccio, Eamonn R. Maher
Institutions: Inserm, Sorbonne Université, Assistance Publique – Hôpitaux de Paris, Centre de Recherche Saint-Antoine, Université Pierre-et-Marie-Curie, Children's Hospital of Philadelphia, University of Pennsylvania, Azienda Ospedaliera Citta' della Salute e della Scienza di Torino, Ospedale Sant'Anna, University of Turin, National Health Service, Birmingham Women’s and Children’s NHS Foundation Trust, University of Birmingham, Amsterdam UMC Location University of Amsterdam, University of Amsterdam, Zealand University Hospital, University of Bologna, Aix-Marseille Université, Assistance Publique Hôpitaux de Marseille, Hôpital de la Timone, IRCCS Ospedale San Raffaele, Sidra Medical and Research Center, Southmead Hospital, Children's Memorial Health Institute, Medizinische Hochschule Hannover, Royal Manchester Children's Hospital, Hospital Universitario La Paz, Instituto de Salud Carlos III, Centre for Biomedical Network Research on Rare Diseases, Universidad Autónoma de Madrid, Tartu University Hospital, University of Tartu, Ospedale Regina Margherita, Hôpitaux Universitaires de Strasbourg, Laboratoire de Génétique Médicale, Université de Strasbourg, IRCCS Istituto Auxologico Italiano, Great Ormond Street Hospital, Great Ormond Street Hospital for Children NHS Foundation Trust, Medical University of Warsaw, Institute of Cancer Research, St George's, University of London, Copenhagen University Hospital, Rigshospitalet, Kennedy Center, Emma Kinderziekenhuis, University Medical Center of the Johannes Gutenberg University Mainz, Universitätsklinikum Aachen, RWTH Aachen University, University of Southampton, University of Campania "Luigi Vanvitelli", Institute of Genetics and Biophysics, University of Cambridge, Cancer Research UK, National Institute for Health and Care Research, Cancer Research UK Cambridge Center, NIHR Cambridge Biomedical Research Centre
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: hybrid
Funders: Alex's Lemonade Stand Foundation for Childhood Cancer, Wellcome Trust, Newlife the Charity for Disabled Children, Société Française de lutte contre les Cancers et les leucémies de l'Enfant et de l'Adolescent, National Institute for Health and Care Research, University of Cambridge, European Commission, Institut National de la Santé et de la Recherche Médicale, Eesti Teadusagentuur, Bundesministerium für Bildung und Forschung, Ministero dell’Istruzione, dell’Università e della Ricerca, Associazione Italiana per la Ricerca sul Cancro, Istituto Auxologico Italiano, National Institutes of Health, Medical Research Council, National Cancer Institute
Awards: G1424033891, NIHR Senior Investigator Award, G2088245219, G2241683054, G2334898709, The detection of new rare genetic diseases in children., The Mechanism of Tumor Formation in Beckwith-Wiedemann Syndrome, Verbundprojekt: Imprintingerkrankungen - klinisches Spektrum und pathogenetische Mechanismen (Imprinting), Teilprojekt 3b, Mainz, G5983806701, Studying Physiology and Pathology of Imprinted Genes to understand the role of Epigenetic Mutations in Human Disease, G8048480176, G8514995630
OpenAlex ID: W2786780539