title: TP53 and FGFR3 Gene Mutation Assessment in Urine: Pilot Study for Bladder Cancer Diagnosis.
abstract: OBJECTIVE
  To assess, in a prospective clinical research study, a new non-invasive and reliable test to accurately detect tumor protein 53 (TP53) and fibroblast growth factor receptor-3 (FGFR3) mutations in cells in urine.
  
  
  METHODS
  TP53 mutations were analyzed using the functional analysis of separated allele in yeast (FASAY) method, which allows functional analysis of the P53 protein, and FGFR3 mutations were assessed with the SNaPshot system, detecting the eight most frequent point-mutations of this gene. Chi-square test or Fisher's exact test were used to compare TP53 and FGFR3 mutations in the tumors according to tumor stage and grade.
  
  
  RESULTS
  TP53 and FGFR3 mutations in bladder tumors increased and decreased respectively with increasing tumor stage and cellular grade (p<0.05 and p<0.001, respectively). A total of 103 tumor/urinary sediment couples were analyzed. TP53 or FGFR3 mutations were observed in 76 tumors. The sensitivity for the detection of this type of mutation in urine was 46%, the specificity was 81%, the positive predictive value was 94% and the negative predictive value was 37%.
  
  
  CONCLUSIONS
  Our original data confirmed the feasibility of TP53 and FGFR3 mutation detection in urine sediment. These measurements, together with urine cytology, may increase tumor detection. The sensitivity of the TP53/FGFR3 phenotype test in the urine was less than 50% and was not able to replace standard cystoscopy in the diagnosis of bladder tumors.
authors.affiliation: Department of Urology, Rouen University Hospital, Rouen, France.
authors.forename: Nicolas
authors.initials: N
authors.lastname: Noel
authors.affiliation: TOXEM Laboratory, Le Havre, France.
authors.forename: Jerome
authors.initials: J
authors.lastname: Couteau
authors.affiliation: TOXEM Laboratory, Le Havre, France.
authors.forename: Geraldine
authors.initials: G
authors.lastname: Maillet
authors.affiliation: Department of Pathology, Rouen University Hospital, Rouen, France.
authors.forename: Françoise
authors.initials: F
authors.lastname: Gobet
authors.affiliation: Clinical Investigation Center, Inserm 6204, Urological Cancerology, Rouen, France.
authors.forename: Françoise
authors.initials: F
authors.lastname: D'Aloisio
authors.affiliation: UMR-I 02 SEBIO, INERIS, BP540, Le Havre, France.
authors.forename: Christophe
authors.initials: C
authors.lastname: Minier
authors.affiliation: Department of Urology, Rouen University Hospital, Rouen, France Clinical Investigation Center, Inserm 6204, Urological Cancerology, Rouen, France Christian.Pfister@chu-rouen.fr.
authors.forename: Christian
authors.initials: C
authors.lastname: Pfister
mesh_terms: D004252:DNA Mutational Analysis; D004587:Electrophoresis, Agar Gel; D006801:Humans; D009154:Mutation / Q000235:genetics*; D009367:Neoplasm Staging; D010641:Phenotype; D010865:Pilot Projects; D051498:Receptor, Fibroblast Growth Factor, Type 3 / Q000235:genetics* / Q000652:urine*; D016159:Tumor Suppressor Protein p53 / Q000235:genetics* / Q000652:urine*; D001749:Urinary Bladder Neoplasms / Q000235:genetics* / Q000473:pathology / Q000652:urine*
chemical_list: D016159:Tumor Suppressor Protein p53; D051498:Receptor, Fibroblast Growth Factor, Type 3
keywords: FGFR3; TP53; bladder cancer; mutation phenotype; urine sediment