{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,10]],"date-time":"2026-09-10T05:46:24Z","timestamp":1789019184342,"version":"build-2803163510"},"reference-count":22,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2022,2,17]],"date-time":"2022-02-17T00:00:00Z","timestamp":1645056000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100018202","name":"Artificial Intelligence Research Center","doi-asserted-by":"publisher","award":["IG 21614"],"award-info":[{"award-number":["IG 21614"]}],"id":[{"id":"10.13039\/100018202","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2022,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Costello syndrome (CS) is a rare disorder affecting development and growth characterized by cancer predisposition and caused by mutations in\n                    <jats:italic>HRAS<\/jats:italic>\n                    proto\u2010oncogene. Somatic\n                    <jats:italic>HRAS<\/jats:italic>\n                    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\u2009years of age with molecular diagnosis of CS. Screening cystoscopies (31 total procedures) were performed to exclude BC. Any lesion was analyzed through cold\u2010cup biopsy or trans\u2010urethral resection of the bladder. According to histology, patients were followed\u2010up with urinalysis and abdominal ultrasound yearly, and cystoscopies every 12\u201324\u00a0months. 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\u2010malignant 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\u2009years and older have high prevalence of bladder lesions (premalignant\/malignant), highlighting the importance of personalized screening protocols.\n                  <\/jats:p>","DOI":"10.1111\/cge.14111","type":"journal-article","created":{"date-parts":[[2022,1,17]],"date-time":"2022-01-17T11:10:23Z","timestamp":1642417823000},"page":"454-458","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Prevalence of bladder cancer in Costello syndrome: New insights to drive clinical decision\u2010making"],"prefix":"10.1111","volume":"101","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4089-637X","authenticated-orcid":false,"given":"Chiara","family":"Leoni","sequence":"first","affiliation":[{"name":"Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health Fondazione Policlinico Universitario \u201cA. Gemelli\u201d IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Filomena Valentina","family":"Paradiso","sequence":"additional","affiliation":[{"name":"Pediatric Surgery Unit, Department of Woman and Child Health and Public Health Fondazione Policlinico Universitario \u201cA. Gemelli\u201d IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nazario","family":"Foschi","sequence":"additional","affiliation":[{"name":"Clinica Urologica, Dipartimento Scienze Mediche e Chirurgiche Fondazione Policlinico Universitario \u201cA. Gemelli\u201d IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marta","family":"Tedesco","sequence":"additional","affiliation":[{"name":"Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health Fondazione Policlinico Universitario \u201cA. Gemelli\u201d IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Pierconti","sequence":"additional","affiliation":[{"name":"Unit of Anatomic Pathology, Department of Woman and Child Health and Public Health Fondazione Policlinico Universitario \u201cA. Gemelli\u201d IRCCS  Rome Italy"},{"name":"Universit\u00e0 Cattolica del Sacro Cuore  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1943-5920","authenticated-orcid":false,"given":"Sara","family":"Silvaroli","sequence":"additional","affiliation":[{"name":"Pediatric Surgery Unit, Department of Woman and Child Health and Public Health Fondazione Policlinico Universitario \u201cA. Gemelli\u201d IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mario Di","family":"Diego","sequence":"additional","affiliation":[{"name":"Pediatric Surgery Unit, Department of Woman and Child Health and Public Health Fondazione Policlinico Universitario \u201cA. Gemelli\u201d IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa","family":"Birritella","sequence":"additional","affiliation":[{"name":"Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health Fondazione Policlinico Universitario \u201cA. Gemelli\u201d IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Pantaleoni","sequence":"additional","affiliation":[{"name":"Genetics and Rare Diseases Research Division Ospedale Pediatrico Bambino Ges\u00f9, IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia","family":"Rendeli","sequence":"additional","affiliation":[{"name":"Spina bifida Center, Department of Woman and Child Health and Public Health Fondazione Policlinico Universitario \u201cA. Gemelli\u201d IRCCS  Rome Italy"},{"name":"Universit\u00e0 Cattolica del Sacro Cuore  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberta","family":"Onesimo","sequence":"additional","affiliation":[{"name":"Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health Fondazione Policlinico Universitario \u201cA. Gemelli\u201d IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Germana","family":"Viscogliosi","sequence":"additional","affiliation":[{"name":"Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health Fondazione Policlinico Universitario \u201cA. Gemelli\u201d IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierfrancesco","family":"Bassi","sequence":"additional","affiliation":[{"name":"Clinica Urologica, Dipartimento Scienze Mediche e Chirurgiche Fondazione Policlinico Universitario \u201cA. Gemelli\u201d IRCCS  Rome Italy"},{"name":"Universit\u00e0 Cattolica del Sacro Cuore  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lorenzo","family":"Nanni","sequence":"additional","affiliation":[{"name":"Pediatric Surgery Unit, Department of Woman and Child Health and Public Health Fondazione Policlinico Universitario \u201cA. 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