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. 2022 Apr;101(4):454-458.
doi: 10.1111/cge.14111. Epub 2022 Feb 17.

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

Chiara Leoni  1 , Filomena Valentina Paradiso  2 , Nazario Foschi  3 , Marta Tedesco  1 , Francesco Pierconti  4   5 , Sara Silvaroli  2 , Mario Di Diego  2 , Lisa Birritella  1 , Francesca Pantaleoni  6 , Claudia Rendeli  7   5 , Roberta Onesimo  1 , Germana Viscogliosi  1 , Pierfrancesco Bassi  3   5 , Lorenzo Nanni  2   5 , Maurizio Genuardi  5   8 , Marco Tartaglia  6 , Giuseppe Zampino  1   7
Affiliations

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

Chiara Leoni et al. Clin Genet. 2022 Apr.

Abstract

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.

Keywords: Costello syndrome; HRAS; bladder cancer; cystoscopy; diagnostic accuracy; personalized medicine; preventive medicine.

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References

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