1. Performance Metrics of the Scoring System for the Diagnosis of the Beckwith–Wiedemann Spectrum (BWSp) and Its Correlation with Cancer Development
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Maria Luca, Diana Carli, Simona Cardaropoli, Donatella Milani, Guido Cocchi, Chiara Leoni, Marina Macchiaiolo, Andrea Bartuli, Luigi Tarani, Daniela Melis, Piera Bontempo, Gemma D’Elia, Elisabetta Prada, Raffaele Vitale, Angelina Grammegna, Pierpaola Tannorella, Angela Sparago, Laura Pignata, Andrea Riccio, Silvia Russo, Giovanni Battista Ferrero, Alessandro Mussa, Luca, Maria, Carli, Diana, Cardaropoli, Simona, Milani, Donatella, Cocchi, Guido, Leoni, Chiara, Macchiaiolo, Marina, Bartuli, Andrea, Tarani, Luigi, Melis, Daniela, Bontempo, Piera, D'Elia, Gemma, Prada, Elisabetta, Vitale, Raffaele, Grammegna, Angelina, Tannorella, Pierpaola, Sparago, Angela, Pignata, Laura, Riccio, Andrea, Russo, Silvia, Ferrero, Giovanni Battista, and Mussa, Alessandro
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Cancer Research ,tumor ,Oncology ,Beckwith–Wiedemann syndrome spectrum ,score ,genomic imprinting - 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 (similar to 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
- Published
- 2023
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