Preprint Review Version 1 Preserved in Portico This version is not peer-reviewed

Diagnostic and Prognostic Biomarkers in Renal Clear Cell Carcinoma

Version 1 : Received: 27 October 2022 / Approved: 31 October 2022 / Online: 31 October 2022 (10:21:51 CET)

A peer-reviewed article of this Preprint also exists.

Weaver, C.; Bin Satter, K.; Richardson, K.P.; Tran, L.K.H.; Tran, P.M.H.; Purohit, S. Diagnostic and Prognostic Biomarkers in Renal Clear Cell Carcinoma. Biomedicines 2022, 10, 2953. Weaver, C.; Bin Satter, K.; Richardson, K.P.; Tran, L.K.H.; Tran, P.M.H.; Purohit, S. Diagnostic and Prognostic Biomarkers in Renal Clear Cell Carcinoma. Biomedicines 2022, 10, 2953.

Abstract

Renal clear cell carcinoma (ccRCC) comprises over 75% of all renal tumors and arises in the epithelial cells of the proximal convoluted tubule. Molecularly ccRCC is characterized by copy number alterations (CNAs) such as the loss of chromosome 3p and VHL inactivation. Additional driver mutations (SETD2, PBRM1, BAP1, and others) promote genomic instability and tumor cell metastasis through the dysregulation of various metabolic and immune-response pathways. Many researchers identified mutation, gene expression, and proteomic signatures for early diagnosis and prognostics for ccRCC. Despite a tremendous influx of data regarding DNA alterations, gene expression, and protein expression, the incorporation of these analyses for diagnosis and prognosis of RCC into the clinical application has not been implemented yet. In this review, we focused on the molecular changes associated with ccRCC development, along with gene expression and protein signatures, to emphasize the utilization of these molecular profiles in clinical practice. These findings, in the context of machine learning and precision medicine, may help to overcome some of the barriers encountered for implementing molecular profiles of tumors into the diagnosis and treatment of ccRCC.

Keywords

Clear cell carcinoma, molecular pathology, biomarkers, gene and protein signatures, machine learning, treatment decision.

Subject

Medicine and Pharmacology, Urology and Nephrology

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