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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Bibliographic Details
Main Authors: Krisztián Szegedi, Zsuzsanna Szabó, Judit Kállai, József Király, Erzsébet Szabó, Zsuzsanna Bereczky, Éva Juhász, Balázs Dezső, Csaba Szász, Barbara Zsebik, Tibor Flaskó, Gábor Halmos
Format: Article
Language:English
Published: MDPI AG 2023-07-01
Series:Journal of Clinical Medicine
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Online Access:https://www.mdpi.com/2077-0383/12/13/4538
Description
Summary: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.
ISSN:2077-0383