Prevalence of bladder cancer in Costello syndrome: new insights to drive clinical decision-making

This study included 13 patients above 10 years of age with molecular diagnosis of CS. Screening cystoscopies (31 total procedures) were performed to exclude BC. Any lesion was analyzed through cold-cup biopsy or trans-urethral resection of the bladder. According to histology, patients were followed-up with urinalysis and abdominal ultrasound yearly, and cystoscopies every 12-24 months. During study enrollment, bladder lesions (often multifocal) were detected in 11/13 patients. Histological analysis documented premalignant lesions in 90% of cystoscopies performed, epithelial dysplasia in 71%, and papillary urothelial neoplasm of low malignant potential in 19%. Bladder cancers G1/low grade (Ta) were removed in 10%. Overall, 76% of patients showed a bladder lesion at first cystoscopy. The present findings document that individuals with CS aged 10 years and older have high prevalence of bladder lesions (premalignant/malignant), highlighting the importance of personalized screening protocols. This article is protected by copyright. All rights reserved.PMID:35038173 | DOI:10.1111/cge.14111

Source: Clinical Genetics - January 17, 2022 Category: Genetics & Stem Cells Authors: Chiara Leoni Filomena Valentina Paradiso Nazario Foschi Marta Tedesco Francesco Pierconti Sara Silvaroli Mario Di Diego Lisa Birritella Francesca Pantaleoni Claudia Rendeli Roberta Onesimo Germana Viscogliosi Pierfrancesco Bassi Lorenzo Nanni Maurizio Gen Source Type: research