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Comparing Metastatic Clear Cell Renal Cell Carcinoma Model Established in Mouse Kidney and on Chicken Chorioallantoic Membrane
Published on: February 8, 2020
[Mutational analysis of the vhl gene in the sporadic renal cell carcinoma]
José Miguel Giménez Bachs1, Antonio Salinas Sánchez, Juan Lorenzo Romero
1Servicio de Urología, Complejo Hospitalario Universitario de Albacete, Albacete, España. gbjosem@sescam.jccm.es
Objectives:
To assess and characterize mutations in the vhl gene in tumor tissue samples from 30 patients undergoing surgery for renal cell carcinoma in our department.
Methods:
Descriptive, observational and analytical study of 30 patients undergoing surgery for RCC, analyzing the vhl gene sequence in tumor tissue, and using healthy renal tissue from the same patients as controls. Tissues were processed by DNA extraction, PCR amplification of the three exons that conform the gene, and ulterior automatic sequence analysis of the amplified exons between intronic primers previously designed. The sequence is compared with the corresponding exons included in the GeneBank. Alterations were checked by backwards sequence analysis.
Results:
9 mutations (30%) were found in the tumoral samples analyzed. 7 of them were punctual (one of them intronic); the other two were deletions. Mutations were distributed among the three exons: 3 in exon 1, 4 in exon 2, 1 in exon 3 and 1 intronic. One of the samples showed 2 mutations. Control tissue was free of mutations.
Conclusions:
Sporadic RCC shows mutations in the vhl gene which mainly appear in the clear cell subtype. Such alterations result in severe disturbances in the protein, disturbing its tumor suppressing function.
Insights
Mutations in the VHL gene were identified in 30% of sporadic renal cell carcinoma (RCC) tumor samples, impacting its tumor suppressor function. These VHL gene alterations are common in clear cell RCC.
Area of Science:
- Oncology
- Molecular Biology
- Genetics
Background:
- Renal cell carcinoma (RCC) is a significant health concern.
- The von Hippel-Lindau (VHL) gene plays a crucial role in tumor suppression.
- Understanding VHL gene mutations is key to comprehending RCC pathogenesis.
Purpose of the Study:
- To investigate and describe mutations within the VHL gene.
- To analyze VHL gene mutations in tumor tissue from RCC patients.
- To correlate VHL gene alterations with RCC subtypes.
Main Methods:
- A descriptive, observational, and analytical study was conducted on 30 RCC patients.
- VHL gene sequencing was performed on tumor and healthy renal tissue.
- DNA extraction, PCR amplification, and automatic sequence analysis were utilized.
Main Results:
- Mutations were detected in 9 out of 30 (30%) tumor samples.
- Seven point mutations and two deletions were identified in the VHL gene.
- Mutations were found across all three exons and within an intron; control tissues were mutation-free.
Conclusions:
- Sporadic RCC frequently harbors VHL gene mutations, particularly in the clear cell subtype.
- These VHL gene alterations significantly disrupt the VHL protein's function.
- The compromised VHL protein function contributes to RCC development by impairing tumor suppression.
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