title: [Preliminary study of p53 and FGFR3 gene mutations in the urine for bladder tumors].
abstract: BACKGROUND
  Two major pathways are described in bladder carcinogenesis: one for invasive or high grade tumors characterized by alteration of the p53 tumor suppressor gene and the other for non-invasive tumors or low grade involving mutations FGFR3. The objective of our study was to validate the research in the urine of mutations in these two genes in patients with a bladder tumor.
  
  
  METHODS
  In our preliminary study, we investigated 36 patients the FGFR3 and p53 mutations in tumors and urine collected during endoscopic resection. The p53 mutations were sought in FASAY, which allows a functional analysis of the protein P53. The FGFR3 mutations were sought in SNaPshot that searches the eight most frequent mutation points of this gene.
  
  
  RESULTS
  For 24 patients (66% of cases), we found at least one of the two mutations in the tumor. This mutation was present in the urine in 15 patients (sensitivity=62.5%). In only one patient, we found a mutation in the urinary sediment that did not exist in the tumor (specificity=91.7%).
  
  
  CONCLUSIONS
  The search for mutations of p53 and FGFR3 in the urine was a simple and non-invasive assay, which seems superior to urinary cytology for the detection of bladder tumors, raising hopes of an interest in this bio-assay for surveillance of bladder tumors and screening risk populations.
authors.affiliation: Service d'urologie, CHU Charles-Nicolle, 1, rue de Germont, 76031 Rouen, France.
authors.forename: N
authors.initials: N
authors.lastname: Noël
authors.forename: J
authors.initials: J
authors.lastname: Couteau
authors.forename: G
authors.initials: G
authors.lastname: Maillet
authors.forename: F
authors.initials: F
authors.lastname: Gobet
authors.forename: F
authors.initials: F
authors.lastname: d'Aloisio
authors.forename: C
authors.initials: C
authors.lastname: Minier
authors.forename: C
authors.initials: C
authors.lastname: Pfister
mesh_terms: D014408:Biomarkers, Tumor / Q000235:genetics* / Q000652:urine; D015331:Cohort Studies; D006801:Humans; D010641:Phenotype; D017354:Point Mutation; D011237:Predictive Value of Tests; D051498:Receptor, Fibroblast Growth Factor, Type 3 / Q000235:genetics* / Q000652:urine; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity; D016896:Treatment Outcome; D016159:Tumor Suppressor Protein p53 / Q000235:genetics* / Q000652:urine; D001749:Urinary Bladder Neoplasms / Q000235:genetics* / Q000473:pathology / Q000601:surgery / Q000652:urine*
chemical_list: D014408:Biomarkers, Tumor; C495901:TP53 protein, human; D016159:Tumor Suppressor Protein p53; C496365:FGFR3 protein, human; D051498:Receptor, Fibroblast Growth Factor, Type 3