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Induction of Invasive Transitional Cell Bladder Carcinoma in Immune Intact Human MUC1 Transgenic Mice: A Model for Immunotherapy Development
Published on: October 30, 2013
Mutational analysis of the BRAF gene in transitional cell carcinoma of the bladder
Ioannis Boulalas1, Apostolos Zaravinos, Demetrios Delakas
1Department of Urology, Asklipieio General Hospital, Voula, Athens, Greece.
Purpose:
Mutational activation of the MAP kinase pathway is frequently found in many types of cancer. Recently, activating mutations in the BRAF gene, an important activator of this pathway, have been described in several tumor types including melanoma, colorectal and papillary thyroid cancer. The most frequent mutation in exon 15 (V600E) as well as several other mutations within exons 11 and 15 result in constitutive activation of the oncoprotein.
Materials And Methods:
Our study aimed to investigate BRAF mutations in 30 human bladder tumors and their adjacent normal tissues. The V600E mutation was screened by PCR/RFLP and exons 11, 14 and 15 of BRAF including intron-exon boundaries were sequenced.
Results:
We detected two tumor specimens bearing two different mutations, both of which were found in exon 15. One sample showed the T1799A (V600E) and the other the G1798T (V600L) mutation. The first specimen was stage pT1a and grade II, whereas the second was stage pT2b and grade III. No mutations within the coding region of exons 11, 14, 15 and the intron-exon junctions for the remaining samples were found.
Conclusions:
Our results suggest that involvement of BRAF mutations in the development of transitional cell carcinoma of the bladder is infrequent.
Insights
BRAF mutations, including the common V600E, are implicated in various cancers. This study found BRAF mutations infrequently in bladder transitional cell carcinoma, suggesting limited involvement in bladder cancer development.
Area of Science:
- Oncology
- Molecular Biology
- Genetics
Background:
- Activating mutations in the MAP kinase pathway, particularly in the BRAF gene, are common drivers in many cancers.
- BRAF mutations, such as V600E in exon 15, lead to the constitutive activation of the oncoprotein, promoting tumor growth.
Purpose of the Study:
- To investigate the presence and types of BRAF gene mutations in human bladder tumors.
- To determine the frequency of BRAF mutations in transitional cell carcinoma of the bladder.
Main Methods:
- Analysis of 30 human bladder tumor samples and adjacent normal tissues.
- Screening for the BRAF V600E mutation using PCR/RFLP.
- Sequencing of BRAF exons 11, 14, and 15, including intron-exon boundaries.
Main Results:
- Two distinct BRAF mutations were identified in exon 15 of two tumor specimens: T1799A (V600E) and G1798T (V600L).
- The identified mutations were associated with different tumor stages and grades (pT1a/Grade II and pT2b/Grade III).
- No BRAF mutations were detected in exons 11, 14, or 15, or at intron-exon junctions in the remaining samples.
Conclusions:
- BRAF mutations appear to be infrequently involved in the pathogenesis of transitional cell carcinoma of the bladder.
- The study highlights the importance of investigating specific gene mutations in different cancer types to understand their etiological roles.
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