Utility of urinary circulating tumor DNA for EGFR mutation detection in different stages of non-small cell lung cancer patients

Li, Fajiu; Huang, Jie; Ji, Dongyuan; Meng, Qinghua; Wang, Chuanhai; Chen, Shi; Wang, Xiaojiang; Zhu, Zuchao; Cheng, Jin; Shi, Yi; Liu, Shuang; Li, Chenghong

doi:10.1007/s12094-017-1669-3

Cited by 27 publications

(21 citation statements)

References 31 publications

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“…QC specializes in cfDNA extraction, and many researchers have reported its efficient purification performance [17][18][19]. The QC has also been widely used for liquid biopsy using urinary cfDNA in various urologic and non-urologic malignancies [5,[28][29][30]. The MM utilizes a magnetic bead-based extraction method.…”

Section: Discussionmentioning

confidence: 99%

Comparison of Four Commercial Kits for Isolation of Urinary Cell-Free DNA and Sample Storage Conditions

Lee

Yoon

et al. 2020

Diagnostics

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Urinary cell-free DNA (cfDNA) is an attractive body fluid for liquid biopsy. In this study, we compared the efficiencies of four commercial kits for urinary cell-free DNA (cfDNA) isolation and of various sample storage conditions. Urinary cfDNA was isolated from 10 healthy individuals using four commercial kits: QIAamp Circulating Nucleic Acid Kit (QC; Qiagen), MagMAX™ Cell-Free DNA Isolation Kit (MM; Applied Biosystems), Urine Cell-Free Circulating DNA Purification Midi Kit (NU; Norgen Biotek), and Quick-DNA™ Urine Kit (ZQ; Zymo Research). To assess the isolation efficiency, an Agilent 2100 Bioanalyzer with High Sensitivity DNA chips was used, and cfDNA yield was defined as the amount of cfDNA obtained from 1 mL of urine. MM and QC provided the highest cfDNA yield in the 50–300 bp range, and MM and NU gave the highest cfDNA yield in the 50–100 bp range. In particular, the NU kit was efficient for isolation of more fragmented cfDNA in the range of 50–100 bp with the lowest cellular genomic DNA contamination. ZQ had the best cost-efficiency for isolating the same amount of urinary cfDNA. Samples stored at −70 °C with the addition of 10 mM EDTA resulted in the highest cfDNA yield 3 months after sample collection.

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Section: Discussionmentioning

confidence: 99%

Comparison of Four Commercial Kits for Isolation of Urinary Cell-Free DNA and Sample Storage Conditions

Lee

Yoon

et al. 2020

Diagnostics

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“…Togneri et al reported that urinary cfDNA of UBC patients has a higher tumor genomic burden and greater detection potential as a genomic biomarker (90%) than urinary pellet DNA (61%). Moreover, some researchers have reported that circulating cfDNA in the blood of patients with advanced cancer was filtrated through glomeruli and detected in urine as “trans‐renal cfDNA.” Urinary cfDNA may have the potential to allow observation of the sequential genetic change of UC, from detecting the disease at an early stage to monitoring the response of systemic therapy, even if there is no evidence of disease in the urinary tract …”

Section: Discussionmentioning

confidence: 99%

Diagnostic potential of TERT promoter and FGFR3 mutations in urinary cell‐free DNA in upper tract urothelial carcinoma

et al. 2019

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Most upper tract urothelial carcinomas ( UTUC ) are muscle invasive at the time of diagnosis. Current standard methods for the diagnosis of UTUC are invasive. Urine cytology is the only non‐invasive test for detecting UTUC , but its sensitivity is low. A novel non‐invasive assay for UTUC detection would improve patient outcome. This study aimed to investigate the mutation of cell‐free DNA (cf DNA ) in urine supernatant to develop a reliable diagnostic biomarker for UTUC patients. We studied urinary cf DNA from 153 individuals, including 56 patients with localized UTUC , and carried out droplet digital PCR assay for TERT promoter and FGFR 3 hotspot mutations. We could detect mutations of TERT C228T in 22/56 (39.3%), TERT C250T in 4/56 (7.1%), and FGFR 3 S249C in 9/56 (16.1%) patients. FGFR 3 mutation was detected only in ≤ pT 1 tumors (positive predictive value: 100.0%). In combination with cytology results, the sensitivity was 78.6%, and the specificity was 96.0%. Although these data need to be validated in a larger‐scale cohort, mutation analysis of TERT promoter and FGFR 3 in urinary cf DNA has the potential to be a non‐invasive diagnostic marker and reliable factor for tumor staging.

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“…In non-urological cancers with urine liquid biopsy, mutation rate rather than methylation and integrity was mainly studied. EGFR and KRAS mutations in NSCLC, [17][18][19][20] KRAS and TP53 mutations in colorectal cancer, 13,21,22 EGFR mutations in gastric cancer, 23 and in other cancers have been reported, but not for PDAC. Chen et al reported that the concordance rate of EGFR mutations in NSCLC patients between tissue and ucfDNA was 88%.…”

Section: Discussionmentioning

confidence: 99%

Utility of liquid biopsy using urine in patients with pancreatic ductal adenocarcinoma

Terasawa

Kinugasa

Ako

et al. 2019

Cancer Biology & Therapy

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In recent years, liquid biopsy for blood and body fluid in cancer patients has attracted attention. However, there have been few reports of liquid biopsy focusing on urine of pancreatic ductal adenocarcinoma (PDAC). In 56 patients with PDAC, DNA was extracted from urine and plasma prior to treatment, and KRAS mutations were analyzed with droplet digital PCR to examine the mutation detection rate. Our study showed that KRAS mutations were found in 27 cases (48%) in urine and 27 cases (48%) in plasma. The detection rate of urine KRAS mutations varied by renal functions. The rates were 70% (14/20) and 36% (13/36) in the creatinine clearance rate (CCr) < 70 mL/min group and in the CCr ≥ 70 mL/min group, respectively (P = .024). Whereas, no influence of the CCr was observed in the detection rates of plasma KRAS mutations. The rates were 50% (10/20) and 47% (17/36) in cases with the CCr < 70 mL/min group and the CCr ≥ 70 mL/min group, respectively. Although the sample size was small, this study clearly indicated a new possibility of less invasive urine liquid biopsy in PDAC patients.

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Utility of urinary circulating tumor DNA for EGFR mutation detection in different stages of non-small cell lung cancer patients

Abstract: The study demonstrated the feasibility of using transrenal DNA in mutation profiling for different stages of NSCLC patients. It highlights the importance of continual monitoring and has potential clinical utility in the clinical management of NSCLC.

Cited by 27 publications

References 31 publications

Comparison of Four Commercial Kits for Isolation of Urinary Cell-Free DNA and Sample Storage Conditions

Comparison of Four Commercial Kits for Isolation of Urinary Cell-Free DNA and Sample Storage Conditions

Diagnostic potential of TERT promoter and FGFR3 mutations in urinary cell‐free DNA in upper tract urothelial carcinoma

Utility of liquid biopsy using urine in patients with pancreatic ductal adenocarcinoma

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