Performance Metrics of the Scoring System for the Diagnosis of the Beckwith–Wiedemann Spectrum (BWSp) and Its Correlation with Cancer Development-Reference-Cited by-同舟云学术

Performance Metrics of the Scoring System for the Diagnosis of the Beckwith–Wiedemann Spectrum (BWSp) and Its Correlation with Cancer Development

Published:2023-01-26 Issue:3 Volume:15 Page:773
ISSN:2072-6694
Container-title:Cancers
language:en
Short-container-title:Cancers

Author:

Luca Maria¹,Carli Diana¹^ORCID,Cardaropoli Simona²^ORCID,Milani Donatella³^ORCID,Cocchi Guido⁴,Leoni Chiara⁵^ORCID,Macchiaiolo Marina⁶,Bartuli Andrea⁶,Tarani Luigi⁷^ORCID,Melis Daniela⁸,Bontempo Piera⁹,D’Elia Gemma⁹,Prada Elisabetta³,Vitale Raffaele²,Grammegna Angelina¹⁰,Tannorella Pierpaola¹¹^ORCID,Sparago Angela¹²^ORCID,Pignata Laura¹²^ORCID,Riccio Andrea¹²¹³^ORCID,Russo Silvia¹¹^ORCID,Ferrero Giovanni Battista¹⁴,Mussa Alessandro²¹⁵

Affiliation:

1. Department of Medical Sciences, University of Torino, 10126 Torino, Italy

2. Department of Public Health and Pediatric Sciences, University of Torino, 10126 Torino, Italy

3. Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy

4. Neonatology Unit, St. Orsola-Malpighi Polyclinic, Department of Medical and Surgical Sciences (DIMEC), University of Bologna, 40138 Bologna, Italy

5. Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli, IRCCS, 00168 Rome, Italy

6. Rare Diseases and Medical Genetics Unit, University-Hospital Pediatric Department (DPUO), Bambino Gesù Children’s Hospital, IRCSS, 00165 Rome, Italy

7. Department of Pediatrics, Medical Faculty, “Sapienza” University of Rome, 00185 Rome, Italy

8. Department of Medicine, Surgery and Dentistry “Scuola Medica Salernitana”, Pediatrics Section, University of Salerno, 84081 Baronissi, Italy

9. Laboratory of Medical Genetics, Molecular Genetics Unit, Bambino Gesù Children Hospital, IRCCS, 00165 Rome, Italy

10. DAI Materno-Infantile, Università degli Studi di Napoli Federico II, 80138 Naples, Italy

11. Research Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, 20021 Milan, Italy

12. Institute of Genetics and Biophysics A. Buzzati-Traverso, Consiglio Nazionale delle Ricerche, 80131 Naples, Italy

13. Department of Environmental Biological and Pharmaceutical Sciences and Technologies (DiSTABiF), Università degli Studi della Campania “Luigi Vanvitelli”, 81100 Caserta, Italy

14. Department of Clinical and Biological Sciences, University of Torino, 10126 Torino, Italy

15. Pediatric Clinical Genetics, Regina Margherita Children Hospital, 10126 Torino, Italy

Abstract

Different scoring systems for the clinical diagnosis of the Beckwith–Wiedemann spectrum (BWSp) have been developed over time, the most recent being the international consensus score. Here we try to validate and provide data on the performance metrics of these scoring systems of the 2018 international consensus and the previous ones, relating them to BWSp features, molecular tests, and the probability of cancer development in a cohort of 831 patients. The consensus scoring system had the best performance (sensitivity 0.85 and specificity 0.43). In our cohort, the diagnostic yield of tests on blood-extracted DNA was low in patients with a low consensus score (~20% with a score = 2), and the score did not correlate with cancer development. We observed hepatoblastoma (HB) in 4.3% of patients with UPD(11)pat and Wilms tumor in 1.9% of patients with isolated lateralized overgrowth (ILO). We validated the efficacy of the currently used consensus score for BWSp clinical diagnosis. Based on our observation, a first-tier analysis of tissue-extracted DNA in patients with <4 points may be considered. We discourage the use of the consensus score value as an indicator of the probability of cancer development. Moreover, we suggest considering cancer screening for negative patients with ILO (risk ~2%) and HB screening for patients with UPD(11)pat (risk ~4%).

Funder

Italian Ministry of Health

Publisher

MDPI AG

Subject

Cancer Research,Oncology

Link

https://www.mdpi.com/2072-6694/15/3/773/pdf

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