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Emerging Molecular Technologies in Renal Cell Carcinoma: Liquid Biopsy

Section of Pathological Anatomy, Polytechnic University of the Marche Region, School of Medicine, United Hospitals, Via Conca 71, I‐60126 Ancona, Italy
Division of Oncology, S.Orsola-Malpighi Hospital, 40138 Bologna, Italy
Oncology Unit, Macerata Hospital, 62100 Macerata, Italy
Department of Pathology and Laboratory Medicine, School of Medicine, Indiana University, Indianapolis, IN 46202, USA
Department of Surgery, Medical School, Cordoba University, 14071 Cordoba, Spain
Author to whom correspondence should be addressed.
Cancers 2019, 11(2), 196;
Received: 4 December 2018 / Revised: 26 January 2019 / Accepted: 4 February 2019 / Published: 7 February 2019
(This article belongs to the Special Issue Cytologic Features of Tumor)
Liquid biopsy, based on the circulating tumor cells (CTCs) and cell-free nucleic acids has potential applications at multiple points throughout the natural course of cancer, from diagnosis to follow-up. The advantages of doing ctDNA assessment vs. tissue-based genomic profile are the minimal procedural risk, the possibility to serial testing in order to monitor disease-relapse and response to therapy over time and to reduce hospitalization costs during the entire process. However, some critical issues related to ctDNA assays should be taken into consideration. The sensitivity of ctDNA assays depends on the assessment technique and genetic platforms used, on tumor-organ, stage, tumor heterogeneity, tumor clonality. The specificity is usually very high, whereas the concordance with tumor-based biopsy is generally low. In patients with renal cell carcinoma (RCC), qualitative analyses of ctDNA have been performed with interesting results regarding selective pressure from therapy, therapeutic resistance, exceptional treatment response to everolimus and mutations associated with aggressive behavior. Quantitative analyses showed variations of ccfDNA levels at different tumor stage. Compared to CTC assay, ctDNA is more stable than cells and easier to isolate. Splice variants, information at single-cell level and functional assays along with proteomics, transcriptomics and metabolomics studies can be performed only in CTCs. View Full-Text
Keywords: renal cell carcinoma; circulating DNA; CTC; diagnosis; follow-up; genetic alteration; target therapy renal cell carcinoma; circulating DNA; CTC; diagnosis; follow-up; genetic alteration; target therapy
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Cimadamore, A.; Gasparrini, S.; Massari, F.; Santoni, M.; Cheng, L.; Lopez-Beltran, A.; Scarpelli, M.; Montironi, R. Emerging Molecular Technologies in Renal Cell Carcinoma: Liquid Biopsy. Cancers 2019, 11, 196.

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