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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
[Inactivation of the VHL gene in sporadic clear cell renal cancer]
Abstract:
Renal cell carcinoma is the most common variant of the kidney cancer, which accounts approximately 75% patients with this disease. The majority of those tumors are characterized by inactivation of the VHL gene suppressor as a result of mutations, allelic deletions and/or methylation. We have conducted the complex molecular-genetic analysis of 64 samples obtained from patients with the clear cell renal cancer. VHL mutations were detected by single strand conformation polymorphism and subsequent sequencing, loss of heterozygosity was analyzed using two STR-markers, methylation was tested by methylsensitive polymerase chain reaction. All revealed variations were statistically analyzed in respect to the parameters of primary tumors in various groups of patients. Seventeen VHL somatic mutations were detected, 12 from which were described for the first time. Allelic deletions of VHL were found in 31.6%, and methylation--in 7.8% samples of the renal cancer. As a whole, VHL inactivating events were presented in 46.9% cases of disease, in 51.7% -among renal cancer patients with first stage. We have not observed any association of mutations, loss of heterozygosity and methylation with clinical-pathological parameters of disease. Results of this investigation specify for expediency of further studies of molecular genetics aberrations in the VHL gene. Perhaps, it would promote renal cancer molecular markers evaluation, for example, a determination of suppressor genes methylated in renal cancer.
Insights
This study investigated VHL gene alterations in clear cell renal cancer, finding inactivating events in 46.9% of cases. No association was found between these genetic changes and clinical-pathological parameters.
Area of Science:
- Oncology
- Molecular Genetics
- Cancer Research
Background:
- Renal cell carcinoma (RCC) is the most common kidney cancer, with clear cell RCC (ccRCC) comprising ~75% of cases.
- VHL tumor suppressor gene inactivation, via mutations, deletions, or methylation, is a key event in the majority of ccRCC tumors.
Purpose of the Study:
- To perform a comprehensive molecular-genetic analysis of the VHL gene in 64 ccRCC patient samples.
- To identify and characterize VHL gene alterations (mutations, loss of heterozygosity, methylation) and assess their association with clinical-pathological parameters.
Main Methods:
- Molecular-genetic analysis of 64 ccRCC samples.
- VHL mutation detection using single-strand conformation polymorphism (SSCP) and sequencing.
- Loss of heterozygosity (LOH) analysis using two STR markers.
- Methylation analysis using methyl-sensitive polymerase chain reaction (MS-PCR).
Main Results:
- Seventeen VHL somatic mutations were identified, 12 of which are novel.
- VHL allelic deletions were found in 31.6% of samples, and methylation in 7.8%.
- Overall, VHL inactivating events occurred in 46.9% of ccRCC cases, including 51.7% of stage I patients. No significant association was observed between VHL alterations and clinical-pathological parameters.
Conclusions:
- VHL gene alterations are frequent in clear cell renal cancer.
- Further research into VHL gene aberrations may aid in identifying molecular markers for renal cancer.
- Determination of methylated suppressor genes in renal cancer could be a potential diagnostic avenue.
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