Ann Kortbæk Bersang*, Anne Kirstine Moeller Darras, Jesper Andreas Palshof, Tim Svenstrup Poulsen, Estrid Høgdall, Nessn Azawi
Published November 03, 2024
Genet. Mol. Res. 23 (4): gmr2387
DOI http://dx.doi.org/10.4238/gmr2387

About the Authors
Ann Kortbæk Bersang*, Anne Kirstine Moeller Darras, Jesper Andreas Palshof, Tim Svenstrup Poulsen, Estrid Høgdall, Nessn Azawi

Corresponding author:
Ann Kortbæk Bersang, MD
E-mail: ann.kortbaek.bersang@regionh.dk

ABSTRACT

Clear cell Renal Cell Carcinoma (ccRCC) accounts for more than 70% of cases among RCC patients and is caused by a significant number of mutations leading to health complications. However, the molecular mechanisms responsible for RCC metastasis remain poorly understood. The aim of this study was to investigate molecular genetic markers in ccRCC patients. A pilot study was conducted, including 10 patients who underwent radical nephrectomy between January 2019 and May 2021. Demographic and clinical characteristics were recorded. DNA was extracted from both tumor tissue and corresponding normal tissue samples from each patient. Exome libraries were then constructed using the Ampliseq™ Exome RDY libraries kit. Data analysis was performed using Ion Torrent Suite™ v5.12.2 and Ion Reporter™ v5.10, with variant classification and characterization of results. We identified 13 key genes: VHL, SETD2, SH3RF1, CDC27, MUC6, LIG1, ATIC, PITPNM3, AHNAK2, ZNF717, MLXIPL, OR4C3, and PRPF4B, which were found to be mutated and potentially responsible for metastasis. Most cases (50%) showed variations in the VHL gene. In conclusion, genetic variations were identified in these genes, supporting their role in cancer progression. Further studies are needed to explore the molecular pathways associated with these genes and to identify potential therapeutic targets.

Key words: Renal Cell Carcinoma; Whole exome sequencing, Molecular genetic markers.