Potential Role of VHL, PTEN, and BAP1 Mutations in Renal Tumors
The genetic profiling of renal tumors has revealed genomic regions commonly affected by structural changes and a general genetic heterogeneity. The VHL, PTEN, and BAP1 genes are often mutated in renal tumors. The frequency and clinical relevance of these mutations in renal tumors are still being res...
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MDPI AG
2023-07-01
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| Series: | Journal of Clinical Medicine |
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| Online Access: | https://www.mdpi.com/2077-0383/12/13/4538 |
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| author | Krisztián Szegedi Zsuzsanna Szabó Judit Kállai József Király Erzsébet Szabó Zsuzsanna Bereczky Éva Juhász Balázs Dezső Csaba Szász Barbara Zsebik Tibor Flaskó Gábor Halmos |
| author_facet | Krisztián Szegedi Zsuzsanna Szabó Judit Kállai József Király Erzsébet Szabó Zsuzsanna Bereczky Éva Juhász Balázs Dezső Csaba Szász Barbara Zsebik Tibor Flaskó Gábor Halmos |
| author_sort | Krisztián Szegedi |
| collection | DOAJ |
| description | The genetic profiling of renal tumors has revealed genomic regions commonly affected by structural changes and a general genetic heterogeneity. The VHL, PTEN, and BAP1 genes are often mutated in renal tumors. The frequency and clinical relevance of these mutations in renal tumors are still being researched. In our study, we investigated VHL, PTEN, and BAP1 genes and the sequencing of 24 samples of patients with renal tumors, revealing that VHL was mutated at a noticeable frequency (25%). Six of the investigated samples showed mutations, and one genetic polymorphism (rs779805) was detected in both heterozygote and homozygote forms. PTEN gene mutation was observed in only one sample, and one specimen showed genetic polymorphism. In the case of the BAP1 gene, all of the samples were wild types. Interestingly, VHL mutation was detected in two female patients diagnosed with AML and in one with oncocytoma. We assume that VHL or PTEN mutations may contribute to the development of human renal cancer. However, the overall mutation rate was low in all specimens investigated, and the development and prognosis of the disease were not exclusively associated with these types of genetic alterations. |
| first_indexed | 2024-03-11T01:37:42Z |
| format | Article |
| id | doaj.art-ffc0734bbc93428d8def1cd0795681fe |
| institution | Directory Open Access Journal |
| issn | 2077-0383 |
| language | English |
| last_indexed | 2024-03-11T01:37:42Z |
| publishDate | 2023-07-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Journal of Clinical Medicine |
| spelling | doaj.art-ffc0734bbc93428d8def1cd0795681fe2023-11-18T16:55:21ZengMDPI AGJournal of Clinical Medicine2077-03832023-07-011213453810.3390/jcm12134538Potential Role of VHL, PTEN, and BAP1 Mutations in Renal TumorsKrisztián Szegedi0Zsuzsanna Szabó1Judit Kállai2József Király3Erzsébet Szabó4Zsuzsanna Bereczky5Éva Juhász6Balázs Dezső7Csaba Szász8Barbara Zsebik9Tibor Flaskó10Gábor Halmos11Department of Urology, Faculty of Medicine, University of Debrecen, 4032 Debrecen, HungaryDepartment of Biopharmacy, Faculty of Pharmacy, University of Debrecen, 4032 Debrecen, HungaryDivision of Clinical Laboratory Science, Department of Laboratory Medicine, Faculty of Medicine, University of Debrecen, 4032 Debrecen, HungaryDepartment of Biopharmacy, Faculty of Pharmacy, University of Debrecen, 4032 Debrecen, HungaryDepartment of Biopharmacy, Faculty of Pharmacy, University of Debrecen, 4032 Debrecen, HungaryDivision of Clinical Laboratory Science, Department of Laboratory Medicine, Faculty of Medicine, University of Debrecen, 4032 Debrecen, HungaryDepartment of Pediatrics, Faculty of Medicine, University of Debrecen, 4032 Debrecen, HungaryDepartment of Pathology, Faculty of Medicine, University of Debrecen, 4032 Debrecen, HungaryDepartment of Pathology, Faculty of Medicine, University of Debrecen, 4032 Debrecen, HungaryDepartment of Biopharmacy, Faculty of Pharmacy, University of Debrecen, 4032 Debrecen, HungaryDepartment of Urology, Faculty of Medicine, University of Debrecen, 4032 Debrecen, HungaryDepartment of Biopharmacy, Faculty of Pharmacy, University of Debrecen, 4032 Debrecen, HungaryThe genetic profiling of renal tumors has revealed genomic regions commonly affected by structural changes and a general genetic heterogeneity. The VHL, PTEN, and BAP1 genes are often mutated in renal tumors. The frequency and clinical relevance of these mutations in renal tumors are still being researched. In our study, we investigated VHL, PTEN, and BAP1 genes and the sequencing of 24 samples of patients with renal tumors, revealing that VHL was mutated at a noticeable frequency (25%). Six of the investigated samples showed mutations, and one genetic polymorphism (rs779805) was detected in both heterozygote and homozygote forms. PTEN gene mutation was observed in only one sample, and one specimen showed genetic polymorphism. In the case of the BAP1 gene, all of the samples were wild types. Interestingly, VHL mutation was detected in two female patients diagnosed with AML and in one with oncocytoma. We assume that VHL or PTEN mutations may contribute to the development of human renal cancer. However, the overall mutation rate was low in all specimens investigated, and the development and prognosis of the disease were not exclusively associated with these types of genetic alterations.https://www.mdpi.com/2077-0383/12/13/4538renal tumorrenal cell carcinoma (RCC)angiomyolipoma (AML)mutationgenetic polymorphismVHL |
| spellingShingle | Krisztián Szegedi Zsuzsanna Szabó Judit Kállai József Király Erzsébet Szabó Zsuzsanna Bereczky Éva Juhász Balázs Dezső Csaba Szász Barbara Zsebik Tibor Flaskó Gábor Halmos Potential Role of VHL, PTEN, and BAP1 Mutations in Renal Tumors Journal of Clinical Medicine renal tumor renal cell carcinoma (RCC) angiomyolipoma (AML) mutation genetic polymorphism VHL |
| title | Potential Role of VHL, PTEN, and BAP1 Mutations in Renal Tumors |
| title_full | Potential Role of VHL, PTEN, and BAP1 Mutations in Renal Tumors |
| title_fullStr | Potential Role of VHL, PTEN, and BAP1 Mutations in Renal Tumors |
| title_full_unstemmed | Potential Role of VHL, PTEN, and BAP1 Mutations in Renal Tumors |
| title_short | Potential Role of VHL, PTEN, and BAP1 Mutations in Renal Tumors |
| title_sort | potential role of vhl pten and bap1 mutations in renal tumors |
| topic | renal tumor renal cell carcinoma (RCC) angiomyolipoma (AML) mutation genetic polymorphism VHL |
| url | https://www.mdpi.com/2077-0383/12/13/4538 |
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