Genetic alteration of clear cell renal cell carcinoma: RNA sequencing technology

Authors

  • Thitiilat Chiraunyanan 1 Department of Disease Control, Ministry of Public Health, Nonthaburi, Thailand 2 Human genetic laboratory, Department of Pathology, Faculty of Medicine Ramathibodi Hospitial, Mahidol University, Bangkok, Thailand
  • Budsaba Rerkamnuaychoke Human Genetic laboratory, Department of Pathology, Faculty of Medicine Ramathibodi Hospitial, Mahidol University, Bangkok, Thailand

DOI:

https://doi.org/10.14456/gag.2021.4

Keywords:

clear cell renal cell carcinoma (ccRCC); RNA sequencing; mutation; evolution; prognosis; therapy

Abstract

Clear cell renal cell carcinoma (ccRCC), the most common subtype of renal cell carcinomas, is associated with a wide range of clinical outcomes. After surgery, approximately one-third of localized ccRCC patients relapse with poor clinical outcomes. Molecular profiling provides the tumor genomic landscape, revealing novel insight into mechanism and therapeutic target for cancer. A literature review challenges the current knowledge of the molecular and genetic basis of ccRCC. Next generation sequencing indicates the most frequent ccRCC driver events including Hipple-Lindau tumor suppressor gene, histone-modifying gene, alteration in the SWI/SNF complex and the PI3K/AKT/mTOR pathway or driver somatic copy number alteration. Intratumor heterogenous landscape using RNA sequencing technology can provide the foundation of clinical prognostic value and progression of the tumor. The RNA sequencing technology can provide mechanisms of biological and tumor behavior in ccRCC to discover novo diagnostic biomarkers in the early stage and novo prognostic biomarkers in the tumor stage. More research is needed on clinical outcome to prognostic value therapeutic strategies as special subtypes for clinical decision-making. The target specific molecular aberrations to therapy selection can thereby be moved towards precision medicine.

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Published

2021-06-11

Issue

Section

Review Articles