FGFR3 and Tp53 mutations in T1G3 transitional bladder carcinomas: independent distribution and lack of association with prognosis

Clin Cancer Res. 2005 Aug 1;11(15):5444-50. doi: 10.1158/1078-0432.CCR-05-0122.

Abstract

FGFR3 and Tp53 mutations have been proposed as defining two alternative pathways in the pathogenesis of transitional bladder cancer. FGFR3 mutations are associated with low-grade tumors and a favorable prognosis. Tp53 alterations are associated with advanced tumors and, possibly, with a poor prognosis. We focus here on the subgroup of T1G3 superficial tumors because they are a major clinical challenge. Patients (n = 119) were identified from a prospective study of 1,356 cases. Mutations in FGFR3 (exons 7, 10, and 15) and Tp53 (exons 4-9) were analyzed using PCR and direct sequencing. All cases were followed for recurrence and death. Survival was analyzed using Kaplan-Meier curves and multivariable Cox regression. FGFR3 mutations were detected in 20 (16.8%) tumors; 100 mutations in Tp53 were found in tumors from 78 (65.5%) cases. Multiple alterations in Tp53 were present in 19 tumors (16%). Inactivating mutations were present in 58% of tumors. The combined mutation distribution (FGFR3/Tp53) was: wt/wt (34.5%), mut/wt (7.6%), wt/mut (48.7%), and mut/mut (9.2%), indicating that the presence of either mutation did not depend on the other (P value = 0.767). FGFR3 and Tp53 mutations were not associated with clinicopathologic characteristics of patients and did not predict, alone or in combination, recurrence or survival. Taking the risk of the wt/wt group as reference, the mutation-associated risks of cancer-specific mortality were: mut/wt 1.42 (0.15-13.75), wt/mut 0.67 (0.19-2.31), mut/mut 1.62 (0.27-9.59). These molecular features support the notion that T1G3 tumors are at the crossroads of the two main molecular pathways proposed for bladder cancer development and progression.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Carcinoma, Transitional Cell / diagnosis*
  • Carcinoma, Transitional Cell / genetics*
  • DNA Mutational Analysis
  • DNA Primers / chemistry
  • Disease Progression
  • Exons
  • Female
  • Genes, p53*
  • Humans
  • Male
  • Middle Aged
  • Multivariate Analysis
  • Mutation*
  • Mutation, Missense
  • Odds Ratio
  • Prognosis
  • Proportional Hazards Models
  • Prospective Studies
  • Receptor, Fibroblast Growth Factor, Type 3 / genetics*
  • Recurrence
  • Time Factors
  • Treatment Outcome
  • Urinary Bladder Neoplasms / diagnosis*
  • Urinary Bladder Neoplasms / genetics*

Substances

  • DNA Primers
  • FGFR3 protein, human
  • Receptor, Fibroblast Growth Factor, Type 3