Monitoring of Plasma Cell-Free DNA in Predicting Postoperative Recurrence of Clear Cell Renal Cell Carcinoma

Wan, JingJing; Zhu, Lijun; Jiang, Zhiqiang; Cheng, Ke

doi:10.1159/000351409

Cited by 50 publications

(49 citation statements)

References 19 publications

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“…Higher cfDNA levels during the course of treatment also indicated poor prognosis [13]. Another study found that plasma cfDNA levels were elevated in metastatic RCC relative to localized disease and could predict postoperative recurrence with 91% sensitivity and 100% specificity [14]. In bladder cancer, urine cfDNA levels were found to be significantly elevated relative to controls [15].…”

Section: Clinical Applications Of Cell-free Dnamentioning

confidence: 99%

Liquid biopsy: a step forward towards precision medicine in urologic malignancies

et al. 2017

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There is a growing trend towards exploring the use of a minimally invasive “liquid biopsy” to identify biomarkers in a number of cancers, including urologic malignancies. Multiple aspects can be assessed in circulating cell-free DNA, including cell-free DNA levels, integrity, methylation and mutations. Other prospective liquid biopsy markers include circulating tumor cells, circulating RNAs (miRNA, lncRNAs and mRNAs), cell-free proteins, peptides and exosomes have also emerged as non-invasive cancer biomarkers. These circulating molecules can be detected in various biological fluids, including blood, urine, saliva and seminal plasma. Liquid biopsies hold great promise for personalized medicine due to their ability to provide multiple non-invasive global snapshots of the primary and metastatic tumors. Molecular profiling of circulating molecules has been a stepping-stone to the successful introduction of several non-invasive multi-marker tests into the clinic. In this review, we provide an overview of the current state of cell-free DNA-based kidney, prostate and bladder cancer biomarker research and discuss the potential utility other circulating molecules. We will also discuss the challenges and limitations facing non-invasive cancer biomarker discovery and the benefits of this growing area of translational research.

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Section: Clinical Applications Of Cell-free Dnamentioning

confidence: 99%

Liquid biopsy: a step forward towards precision medicine in urologic malignancies

et al. 2017

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“…However, the accurate detection of copy number alterations is still challenging since only a very small fraction of total cfDNA is derived from tumors in most patients. The presence of tumor cell-free DNA in plasma of patients with ccRCC has been shown before [44, 45], therefore we attempted to detect the chromosome aberrations characteristic for ccRCC in patients’ plasma using shallow NGS and WISECONDOR software [46]. In our proof of concept experiment we show cfDNA contains more advanced chromosome aberrations than detected by the genomic SNP array on tumor sample.…”

Section: Discussionmentioning

confidence: 62%

Genetic characterization of Polish ccRCC patients: somatic mutation analysis of PBRM1, BAP1 and KDMC5, genomic SNP array analysis in tumor biopsy and preliminary results of chromosome aberrations analysis in plasma cell free DNA

et al. 2017

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BackgroundMutation analysis and cytogenetic testing in clear cell renal cell carcinoma (ccRCC) is not yet implemented in a routine diagnostics of ccRCC.Material and methodsWe characterized the chromosomal alterations in 83 ccRCC tumors from Polish patients using whole genome SNP genotyping assay. Moreover, the utility of next generation sequencing of cell free DNA (cfDNA) in patients plasma as a potential tool for non-invasive cytogenetic analysis was tested. Additionally, tumor specific somatic mutations in PBRM1, BAP1 and KDM5C were determinedResultsWe confirmed a correlation between deletions at 9p and higher tumor size, and deletion of chromosome 20 and the survival time. In Fuhrman grade 1, only aberrations of 3p and 8p deletion, gain of 5q and 13q and gains of chromosome 7 and 16 were present. The number of aberrations increased with Fuhrman grade, all chromosomes displayed cytogenetic changes in G3 and G4. ccRCC specific chromosome aberrations were observed in cfDNA, although discrepancies were found between cfDNA and tumor samples. In total 12 common and 94 rare variants were detected in PBRM1, BAP1 and KDM5C, with four potentially pathogenic variants. We observed markedly lower mutation load in PBRM1.ConclusionsCytogenetic analysis of cfDNA may allow more accurate diagnosis of tumor aberrations and therefore the correlation between the chromosome aberrations in cfDNA and clinical outcome should be studied in larger cohorts. The functional studies on in BAP1, KDM5C, PBRM1 mutations in large, independent sample set would be necessary for the assessment of their prognostic and diagnostic potential.

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“…Cell-free DNA is shed from apoptotic and necrotic cells into the blood stream ( 66 ). Since its first identification in cancer patients ( 67 ), it has been investigated as both a diagnostic ( 68 , 69 ) and prognostic cancer ( 70 , 71 ) biomarker in RCC and other cancers ( 72–75 ). However, cell-free DNA is not yet clinically validated in RCC.…”

Section: Discussionmentioning

confidence: 99%

Systematic Review and STARD Scoring of Renal Cell Carcinoma Circulating Diagnostic Biomarker Manuscripts

Iafolla

Picardo

Aung

et al. 2020

JNCI Cancer Spectrum

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Background No validated molecular biomarkers exist to help guide diagnosis of renal cell carcinoma (RCC) patients. We seek to evaluate the quality of published RCC circulating diagnostic biomarker manuscripts using the Standards for Reporting of Diagnostic Accuracy Studies (STARD) guidelines. Methods The phrase “(renal cell carcinoma OR renal cancer OR kidney cancer OR kidney carcinoma) AND circulating AND (biomarkers OR cell free DNA OR tumor DNA OR methylated cell free DNA OR methylated tumor DNA)” was searched in Embase, Medline and PubMed March 2018. Relevant manuscripts were scored using 41 STARD sub-criteria for a maximal score of 26 points. All tests of statistical significance were two sided. Results The search identified 535 publications: 27 manuscripts of primary research were analyzed. The median STARD score was 11.5 (range: 7–16.75). All manuscripts had appropriate abstracts, introductions and distribution of alternative diagnoses. None of the manuscripts stated how indeterminant data was handled or if adverse events occurred from performing the index test or reference standard. Statistically significantly higher STARD scores were present in manuscripts reporting receiver operator characteristic curves (p<.001), larger sample sizes (p=.007), and after release of the original STARD statement (p=.005). Conclusions Most RCC circulating diagnostic biomarker manuscripts poorly adhere to the STARD guidelines. Future studies adhering to STARD guidelines may address this unmet need.

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Monitoring of Plasma Cell-Free DNA in Predicting Postoperative Recurrence of Clear Cell Renal Cell Carcinoma

Cited by 50 publications

References 19 publications

Liquid biopsy: a step forward towards precision medicine in urologic malignancies

Liquid biopsy: a step forward towards precision medicine in urologic malignancies

Genetic characterization of Polish ccRCC patients: somatic mutation analysis of PBRM1, BAP1 and KDMC5, genomic SNP array analysis in tumor biopsy and preliminary results of chromosome aberrations analysis in plasma cell free DNA

Systematic Review and STARD Scoring of Renal Cell Carcinoma Circulating Diagnostic Biomarker Manuscripts

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