Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement

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

doi:10.1038/nrendo.2017.166

Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement

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 LapunzinaYves 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

Institut for Klinisk Medicin

151 Citationer (Scopus)

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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.

Originalsprog	Engelsk
Tidsskrift	Nature Reviews Endocrinology
Vol/bind	14
Sider (fra-til)	229-249
ISSN	1759-5029
DOI	https://doi.org/10.1038/nrendo.2017.166
Status	Udgivet - 1 apr. 2018

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Brioude, F., Kalish, J. M., Mussa, A., Foster, A. C., Bliek, J., Ferrero, G. B., Boonen, S. E., Cole, T., Baker, R., Bertoletti, M., Cocchi, G., Coze, C., De Pellegrin, M., Hussain, K., Ibrahim, A., Kilby, M. D., Krajewska-Walasek, M., Kratz, C. P., Ladusans, E. J., ... Maher, E. R. (2018). Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement. Nature Reviews Endocrinology, 14, 229-249. https://doi.org/10.1038/nrendo.2017.166

Brioude, F, Kalish, JM, Mussa, A, Foster, AC, Bliek, J, Ferrero, GB, Boonen, SE, Cole, T, Baker, R, Bertoletti, M, Cocchi, G, Coze, C, De Pellegrin, M, Hussain, K, Ibrahim, A, Kilby, MD, Krajewska-Walasek, M, Kratz, CP, Ladusans, EJ, Lapunzina, P, Le Bouc, Y, Maas, SM, Macdonald, F, Õunap, K, Peruzzi, L, Rossignol, S, Russo, S, Shipster, C, Skórka, A, Tatton-Brown, K, Tenorio, J, Tortora, C, Grønskov, K, Netchine, I, Hennekam, RC, Prawitt, D, Tümer, Z, Eggermann, T, Mackay, DJG, Riccio, A & Maher, ER 2018, 'Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement', Nature Reviews Endocrinology, bind 14, s. 229-249. https://doi.org/10.1038/nrendo.2017.166

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title = "Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement",

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.",

author = "Fr{\'e}d{\'e}ric Brioude and Kalish, {Jennifer M} and Alessandro Mussa and Foster, {Alison C} and Jet Bliek and Ferrero, {Giovanni Battista} and Boonen, {Susanne E} and Trevor Cole and Robert Baker and Monica Bertoletti and Guido Cocchi and Carole Coze and {De Pellegrin}, Maurizio and Khalid Hussain and Abdulla Ibrahim and Kilby, {Mark D} and Malgorzata Krajewska-Walasek and Kratz, {Christian P} and Ladusans, {Edmund J} and Pablo Lapunzina and {Le Bouc}, Yves and Maas, {Saskia M} and Fiona Macdonald and Katrin {\~O}unap and Licia Peruzzi and Sylvie Rossignol and Silvia Russo and Caroleen Shipster and Agata Sk{\'o}rka and Katrina Tatton-Brown and Jair Tenorio and Chiara Tortora and Karen Gr{\o}nskov and Ir{\`e}ne Netchine and Hennekam, {Raoul C} and Dirk Prawitt and Zeynep T{\"u}mer and Thomas Eggermann and Mackay, {Deborah J G} and Andrea Riccio and Maher, {Eamonn R}",

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T2 - an international consensus statement

AU - Brioude, Frédéric

AU - Kalish, Jennifer M

AU - Mussa, Alessandro

AU - Foster, Alison C

AU - Bliek, Jet

AU - Ferrero, Giovanni Battista

AU - Boonen, Susanne E

AU - Cole, Trevor

AU - Baker, Robert

AU - Bertoletti, Monica

AU - Cocchi, Guido

AU - Coze, Carole

AU - De Pellegrin, Maurizio

AU - Hussain, Khalid

AU - Ibrahim, Abdulla

AU - Kilby, Mark D

AU - Krajewska-Walasek, Malgorzata

AU - Kratz, Christian P

AU - Ladusans, Edmund J

AU - Lapunzina, Pablo

AU - Le Bouc, Yves

AU - Maas, Saskia M

AU - Macdonald, Fiona

AU - Õunap, Katrin

AU - Peruzzi, Licia

AU - Rossignol, Sylvie

AU - Russo, Silvia

AU - Shipster, Caroleen

AU - Skórka, Agata

AU - Tatton-Brown, Katrina

AU - Tenorio, Jair

AU - Tortora, Chiara

AU - Grønskov, Karen

AU - Netchine, Irène

AU - Hennekam, Raoul C

AU - Prawitt, Dirk

AU - Tümer, Zeynep

AU - Eggermann, Thomas

AU - Mackay, Deborah J G

AU - Riccio, Andrea

AU - Maher, Eamonn R

PY - 2018/4/1

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N2 - 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.

AB - 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.

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DO - 10.1038/nrendo.2017.166

M3 - Review

C2 - 29377879

SN - 1759-5029

VL - 14

SP - 229

EP - 249

JO - Nature Reviews Endocrinology

JF - Nature Reviews Endocrinology

ER -

Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement

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