Recommendations of the Scientific Committee of the Italian Beckwith-Wiedemann Syndrome Association on the diagnosis, Management and follow-up of the syndrome

Alessandro Mussa, Stefania Di Candia, Silvia Russo, Serena Catania, Maurizio De Pellegrin, Luisa Di Luzio, Mario Ferrari, Chiara Tortora, Maria C. Meazzini, Roberto Brusati, Donatella Milani, Giuseppe Zampino, Rosario Montirosso, Andrea Riccio, Angelo Selicorni, Guido Cocchi, G. B. Ferrero

Research output: Contribution to journalArticle

Abstract

Beckwith-Wiedemann syndrome (BWS) is the most common (epi)genetic overgrowth-cancer predisposition disorder. Given the absence of consensual recommendations or international guidelines, the Scientific Committee of the Italian BWS Association (www.aibws.org) proposed these recommendations for the diagnosis, molecular testing, clinical management, follow-up and tumor surveillance of patients with BWS. The recommendations are intended to allow a timely and appropriate diagnosis of the disorder, to assist patients and their families, to provide clinicians and caregivers optimal strategies for an adequate and satisfactory care, aiming also at standardizing clinical practice as a national uniform approach. They also highlight the direction of future research studies in this setting. With recent advances in understanding the disease (epi)genetic mechanisms and in describing large cohorts of BWS patients, the natural history of the disease will be dissected. In the era of personalized medicine, the emergence of specific (epi)genotype-phenotype correlations in BWS will likely lead to differentiated follow-up approaches for the molecular subgroups, to the development of novel tools to evaluate the likelihood of cancer development and to the refinement and optimization of current tumor screening strategies. Conclusions: In this article, we provide the first comprehensive recommendations on the complex management of patients with Beckwith-Wiedemann syndrome.

Original languageEnglish
Pages (from-to)52-64
Number of pages13
JournalEuropean Journal of Medical Genetics
Volume59
Issue number1
DOIs
Publication statusPublished - Jan 1 2016

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Beckwith-Wiedemann Syndrome
Neoplasms
Precision Medicine
Inborn Genetic Diseases
Genetic Association Studies
Caregivers
Guidelines

Keywords

  • Beckwith-Wiedemann syndrome
  • Cancer predisposition
  • Follow-up
  • Overgrowth
  • Recommendations

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Recommendations of the Scientific Committee of the Italian Beckwith-Wiedemann Syndrome Association on the diagnosis, Management and follow-up of the syndrome. / Mussa, Alessandro; Di Candia, Stefania; Russo, Silvia; Catania, Serena; De Pellegrin, Maurizio; Di Luzio, Luisa; Ferrari, Mario; Tortora, Chiara; Meazzini, Maria C.; Brusati, Roberto; Milani, Donatella; Zampino, Giuseppe; Montirosso, Rosario; Riccio, Andrea; Selicorni, Angelo; Cocchi, Guido; Ferrero, G. B.

In: European Journal of Medical Genetics, Vol. 59, No. 1, 01.01.2016, p. 52-64.

Research output: Contribution to journalArticle

Mussa, A, Di Candia, S, Russo, S, Catania, S, De Pellegrin, M, Di Luzio, L, Ferrari, M, Tortora, C, Meazzini, MC, Brusati, R, Milani, D, Zampino, G, Montirosso, R, Riccio, A, Selicorni, A, Cocchi, G & Ferrero, GB 2016, 'Recommendations of the Scientific Committee of the Italian Beckwith-Wiedemann Syndrome Association on the diagnosis, Management and follow-up of the syndrome', European Journal of Medical Genetics, vol. 59, no. 1, pp. 52-64. https://doi.org/10.1016/j.ejmg.2015.11.008
Mussa, Alessandro ; Di Candia, Stefania ; Russo, Silvia ; Catania, Serena ; De Pellegrin, Maurizio ; Di Luzio, Luisa ; Ferrari, Mario ; Tortora, Chiara ; Meazzini, Maria C. ; Brusati, Roberto ; Milani, Donatella ; Zampino, Giuseppe ; Montirosso, Rosario ; Riccio, Andrea ; Selicorni, Angelo ; Cocchi, Guido ; Ferrero, G. B. / Recommendations of the Scientific Committee of the Italian Beckwith-Wiedemann Syndrome Association on the diagnosis, Management and follow-up of the syndrome. In: European Journal of Medical Genetics. 2016 ; Vol. 59, No. 1. pp. 52-64.
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