Molecular characterization and diagnostic criteria of renal cell carcinoma with emphasis on liquid biopsies

Alessia Cimadamore, Francesco Massari, Matteo Santoni, Veronica Mollica, Vincenzo Di Nunno, Liang Cheng, Antonio Lopez-Beltran, Marina Scarpelli, Rodolfo Montironi, Holger Moch

Research output: Contribution to journalReview article


Introduction: Over the past 6 years, important genomic and transcriptomic studies performed on RCC reported a comprehensive molecular description of RCC pathogenic alterations. Such molecular findings pave the way for an integrated classification, based on histopathology aspects and molecular alterations in order to personalize the clinical management of RCC. Areas covered: The aim of this review is to evaluate the current knowledge and the potential value of liquid biopsy in RCC. Studies on presence and analysis of circulating tumor DNA (ctDNA), circulating RNA, specific microRNA, long non-coding RNA, and circulating tumor cells are reported for each phase of disease, from the diagnostic setting to the localized disease and, lastly, in the metastatic stage. Expert opinion: Advantages of liquid biopsies compared to serial tissue sampling are numerous. However, some limitations must be addressed before considering liquid biopsy as a noninvasive biomarker of clinical utility. The suboptimal sensitivity depends on the assessment technique and genetic platforms used, the tumor organ, the tumor stage, tumor heterogeneity, and clonality. The rate of discordance with tumor tissue genotyping may depends on temporal heterogeneity, spatial heterogeneity, and/or assay error (false-negative or false-positive genotyping).

Original languageEnglish (US)
Pages (from-to)141-150
Number of pages10
JournalExpert Review of Molecular Diagnostics
Issue number2
StatePublished - Feb 1 2020



  • Renal cell carcinoma
  • circulating tumor cells
  • ctDNA
  • liquid biopsy
  • target therapy

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Molecular Medicine
  • Molecular Biology
  • Genetics

Cite this

Cimadamore, A., Massari, F., Santoni, M., Mollica, V., Di Nunno, V., Cheng, L., Lopez-Beltran, A., Scarpelli, M., Montironi, R., & Moch, H. (2020). Molecular characterization and diagnostic criteria of renal cell carcinoma with emphasis on liquid biopsies. Expert Review of Molecular Diagnostics, 20(2), 141-150.