Emerging molecular technologies in renal cell carcinoma

Liquid biopsy

Alessia Cimadamore, Silvia Gasparrini, Francesco Massari, Matteo Santoni, Liang Cheng, Antonio Lopez-Beltran, Marina Scarpelli, Rodolfo Montironi

Research output: Contribution to journalReview article

Abstract

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.

Original languageEnglish (US)
Article number196
JournalCancers
Volume11
Issue number2
DOIs
StatePublished - Feb 1 2019

Fingerprint

Renal Cell Carcinoma
Technology
Circulating Neoplastic Cells
Biopsy
Neoplasms
Genetic Techniques
Metabolomics
Therapeutics
Proteomics
Nucleic Acids
Hospitalization
Costs and Cost Analysis
Recurrence
Mutation

Keywords

  • Circulating DNA
  • CTC
  • Diagnosis
  • Follow-up
  • Genetic alteration
  • Renal cell carcinoma
  • Target therapy

ASJC Scopus subject areas

  • Oncology
  • Cancer Research

Cite this

Cimadamore, A., Gasparrini, S., Massari, F., Santoni, M., Cheng, L., Lopez-Beltran, A., ... Montironi, R. (2019). Emerging molecular technologies in renal cell carcinoma: Liquid biopsy. Cancers, 11(2), [196]. https://doi.org/10.3390/cancers11020196

Emerging molecular technologies in renal cell carcinoma : Liquid biopsy. / Cimadamore, Alessia; Gasparrini, Silvia; Massari, Francesco; Santoni, Matteo; Cheng, Liang; Lopez-Beltran, Antonio; Scarpelli, Marina; Montironi, Rodolfo.

In: Cancers, Vol. 11, No. 2, 196, 01.02.2019.

Research output: Contribution to journalReview article

Cimadamore, A, Gasparrini, S, Massari, F, Santoni, M, Cheng, L, Lopez-Beltran, A, Scarpelli, M & Montironi, R 2019, 'Emerging molecular technologies in renal cell carcinoma: Liquid biopsy', Cancers, vol. 11, no. 2, 196. https://doi.org/10.3390/cancers11020196
Cimadamore A, Gasparrini S, Massari F, Santoni M, Cheng L, Lopez-Beltran A et al. Emerging molecular technologies in renal cell carcinoma: Liquid biopsy. Cancers. 2019 Feb 1;11(2). 196. https://doi.org/10.3390/cancers11020196
Cimadamore, Alessia ; Gasparrini, Silvia ; Massari, Francesco ; Santoni, Matteo ; Cheng, Liang ; Lopez-Beltran, Antonio ; Scarpelli, Marina ; Montironi, Rodolfo. / Emerging molecular technologies in renal cell carcinoma : Liquid biopsy. In: Cancers. 2019 ; Vol. 11, No. 2.
@article{3694b17e7f0b49da917c146dce4e3d00,
title = "Emerging molecular technologies in renal cell carcinoma: Liquid biopsy",
abstract = "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.",
keywords = "Circulating DNA, CTC, Diagnosis, Follow-up, Genetic alteration, Renal cell carcinoma, Target therapy",
author = "Alessia Cimadamore and Silvia Gasparrini and Francesco Massari and Matteo Santoni and Liang Cheng and Antonio Lopez-Beltran and Marina Scarpelli and Rodolfo Montironi",
year = "2019",
month = "2",
day = "1",
doi = "10.3390/cancers11020196",
language = "English (US)",
volume = "11",
journal = "Cancers",
issn = "2072-6694",
publisher = "Multidisciplinary Digital Publishing Institute (MDPI)",
number = "2",

}

TY - JOUR

T1 - Emerging molecular technologies in renal cell carcinoma

T2 - Liquid biopsy

AU - Cimadamore, Alessia

AU - Gasparrini, Silvia

AU - Massari, Francesco

AU - Santoni, Matteo

AU - Cheng, Liang

AU - Lopez-Beltran, Antonio

AU - Scarpelli, Marina

AU - Montironi, Rodolfo

PY - 2019/2/1

Y1 - 2019/2/1

N2 - 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.

AB - 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.

KW - Circulating DNA

KW - CTC

KW - Diagnosis

KW - Follow-up

KW - Genetic alteration

KW - Renal cell carcinoma

KW - Target therapy

UR - http://www.scopus.com/inward/record.url?scp=85062384279&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85062384279&partnerID=8YFLogxK

U2 - 10.3390/cancers11020196

DO - 10.3390/cancers11020196

M3 - Review article

VL - 11

JO - Cancers

JF - Cancers

SN - 2072-6694

IS - 2

M1 - 196

ER -