Exploring neoantigens and genetic profiles in renal cell carcinoma: a study of Iranian patients

Abstract

Introduction: Kidney cancer accounts for 3.7% of all newly diagnosed cancer cases and represents a considerable global health challenge. Although there have been advancements in treatment, renal cell carcinoma (RCC) continues to show resistance to conventional cytotoxic chemotherapy, highlighting the need for innovative therapeutic strategies. Current research is focusing on vaccine approaches that target tumor neoantigens, utilizing next-generation sequencing to pinpoint tumor-specific mutations. A deeper understanding of the molecular characteristics of RCC, particularly gene mutations such as BAP1, PBRM1, SETD2, and VHL, is essential for the development of personalized treatment modalities. This study aimed to investigate potential tumor neoantigens in samples from Iranian patients diagnosed with RCC, with an emphasis on peptide sequences that exhibit a strong binding affinity for Iranian Human Leukocyte Antigen (HLA).

Materials and methods: Databases and relevant literature were employed to identify neoantigens with the highest prevalence. Tumor samples were obtained from patients with RCC, and primary cells were isolated and cultured in RPMI complete medium. Total DNA was extracted, followed by polymerase chain reaction (PCR) using specifically designed primers, and the resulting PCR products were sequenced using Sanger sequencing.

Results: Our examination did not identify the specified nucleotide changes in the DNA sequencing chromatogram of the cell samples, indicating that the anticipated mutations were absent. Nevertheless, other mutations were observed in the analyzed regions of the genes.

Conclusion: Although certain mutations were not identified in the sequenced samples, this research highlights the necessity for further investigation. Comprehensive studies are vital to gain a complete understanding of the genetic mutation profile of RCC in Iranian patients. Mapping the gene mutation landscape among RCC patients in Iran presents significant opportunities for the development of effective cancer vaccines and tailored treatment strategies.