Document Type
Article
Publication Date
2024
DOI
10.1159/000541370
Publication Title
Oncology
Volume
103 (Article in Press)
Pages
341-350
Abstract
Introduction: Previous literature has shown that clear cell renal cell carcinoma (ccRCC) is becoming a more prevalent diagnosis and that the incidence and mortality differ both regionally and racially. While the molecular profiles for ccRCC are studied regionally through biopsy and sequencing techniques, the genomic landscape and ccRCC diversity data are not well-studied. We conducted a review of the known genomic data on 6 of the most clinically relevant DNA biomarkers in ccRCC: Von Hippel-Landau (vHL), Polybromo-1 (PBRM1), Breast Cancer Gene 1-Associated Protein 1 (BAP1), Histone-Lysine N-Methyltransferase Domain-Containing 2 (SETD2), Mammalian Target of Rapamycin (mTOR), and Lysine-Specific Demethylase 5C (KDM5C). The review compiled genomic diversity data, incidence, and risk factor differences by geographical and racial cohorts. Methods: The review methodology was created using Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) principles from articles on PubMed and Embase through July 31, 2023, written and published in English, with diagnoses of primary or metastatic ccRCC via cytology or pathology, recorded the incidence of one or more of the 6 biomarkers, explored gene aberration via sequencing, were epidemiological in nature; and/or discussed basic science research, cohort studies, or retrospective studies. Results: Aberrations in vHL, PBRM1, and SETD2 driving ccRCC are studied frequently, but the data is heterogenous; whereas, there is a paucity in the data regarding KDM5C, PBRM1, and mTOR mutations. Conclusion: Studying the genetic aberrations that frequently occur in different regions gives insight into what current research lacks. When more genomic landscape research arises, precision therapy, risk calculators, and artificial intelligence may help better prognosticate and individualize treatment for those at risk for ccRCC. Provided the scarcity of existing data, and the rising prevalence of ccRCC, more studies must be conducted at the clinical level.
Rights
© 2024 The Authors.
This article is licensed under the Creative Commons Attribution NonCommercial 4.0 International License (CC BY-NC 4.0). Usage and distribution for commercial purposes requires written permission.
Data Availability
Article states: "The data that support the findings of this scoping review are derived from publicly available sources. Studies and databases referenced throughout are cited within the manuscript and are available through their respective databases or publishers. No new primary data were generated for this review. Data found in online supplementary Table 4 [10, 11, 13, 20–60]."
Original Publication Citation
Kumar, S. S., Khandekar, N., Dani, K., Bhatt, S. R., Duddalwar, V., & D'Souza, A. (2024). A scoping review of population diversity in the common genomic aberrations of clear cell renal cell carcinoma. Oncology. Advance online publication. https://doi.org/10.1159/000541370
Repository Citation
Kumar, S. S., Khandekar, N., Dani, K., Bhatt, S. R., Duddalwar, V., & D'Souza, A. (2024). A scoping review of population diversity in the common genomic aberrations of clear cell renal cell carcinoma. Oncology. Advance online publication. https://doi.org/10.1159/000541370
Supplementary Materials
Included in
Cancer Biology Commons, Diagnosis Commons, Genomics Commons, Oncology Commons
