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Updated: Jul 7, 2026

Cell-Free DNA Integrity Analysis in Urine Samples
Published on: January 5, 2017
Fibroblast growth factor receptor 3 mutations in bladder tumors correlate with low frequency of chromosome
Kerstin Junker1, Johanna M M van Oers, Ellen C Zwarthoff
1Department of Urology, Friedrich-Schiller-University, Jena, Germany. kerstin.junker@med.uni-jena.de
Abstract:
The aim of this study was to analyze the distribution of FGFR3 mutations in bladder tumors of different grade and stage and determine the relation of mutations to chromosomal alterations detected by comparative genomic hybridization (CGH). One hundred bladder cancer samples served as templates for manual microdissection. DNA was isolated from dissected samples containing at least 80% tumor cells. Mutations in FGFR3 were analyzed by SNaPshot analysis. CGH was carried out according to standard protocols. FGFR3 mutations were detected in 45 of 92 samples (48.9%). Concerning T-category, the following mutation frequencies occurred: pTa, 69%; pT1, 38%; and pT2-3, 0%. The mutation frequency was significantly associated with tumor grade: G1, 72%; G2, 56%; and G3, 4%. In pTaG1 tumors, mutations were found in 74%. A significantly lower number of genetic alterations per tumor detected by CGH was associated with FGFR3 mutations (2 vs 8). This association was also seen in pTaG1 tumors: 2.5 (with mutation) vs 7.5 (without mutation). FGFR3 mutations characterize noninvasive low-risk tumors of low malignancy. The low malignant potential of these tumors is underlined by a low number of genetic alterations per tumor. Therefore, FGFR3 represents a valuable prognostic marker of tumors with low malignant potential and can be used as surrogate marker for the detection of genetically stable bladder tumors.
Insights
Fibroblast growth factor receptor 3 (FGFR3) mutations are common in early-stage bladder cancer. These mutations correlate with fewer genetic alterations, indicating a lower risk and better prognosis.
Area of Science:
- Urology
- Oncology
- Molecular Biology
Background:
- Bladder cancer exhibits diverse genetic alterations.
- Fibroblast growth factor receptor 3 (FGFR3) is frequently implicated in tumorigenesis.
Purpose of the Study:
- To investigate FGFR3 mutation distribution across bladder tumor grades and stages.
- To correlate FGFR3 mutations with chromosomal aberrations via comparative genomic hybridization (CGH).
Main Methods:
- Manual microdissection of 100 bladder cancer samples.
- DNA isolation and SNaPshot analysis for FGFR3 mutations.
- Comparative genomic hybridization (CGH) for chromosomal alterations.
Main Results:
- FGFR3 mutations found in 48.9% of samples.
- Higher mutation frequency in non-invasive (pTa) and low-grade (G1) tumors (74% in pTaG1).
- FGFR3 mutations associated with significantly fewer genetic alterations (2 vs. 8).
Conclusions:
- FGFR3 mutations identify non-invasive, low-risk bladder tumors.
- These mutations correlate with genetic stability and low malignant potential.
- FGFR3 serves as a prognostic marker for genetically stable bladder tumors.
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