2022/01/17 by Chiara Leoni, Filomena Valentina Paradiso, Nazario Foschi +14 · 1 citation
Biochemistry, Genetics and Molecular Biology · Medicine · Pharmacology, Toxicology and Pharmaceutics · #Fluorine in Organic Chemistry #Protein Tyrosine Phosphatases #Synthesis of Organic Compounds
paper · doi:10.1111/cge.14111
openalex publication_date 2022/01/17 · crossref created 2022/01/17 · crossref issued 2022/02/17 · crossref published 2022/02/17 · crossref published-online 2022/02/17 · crossref published-print 2022/04/01 · crossref deposited 2023/08/27 · openalex created_date 2025/10/10 · crossref indexed 2026/07/30 · openalex updated_date 2026/07/30
Costello syndrome (CS) is a rare disorder affecting development and growth characterized by cancer predisposition and caused by mutations in HRAS proto-oncogene. Somatic HRAS mutations drive bladder carcinogenesis. The aim of this study was to analyze prevalence and histological characterization of bladder cancer (BC) in a cohort of patients with CS to help clinicians plan effective management strategies. 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%. BC 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.