A novel cell-free single-molecule unique primer extension resequencing (cf-SUPER) technology for bladder cancer non-invasive detection in urine

2020 Translational Andrology and Urology. All rights reserved..

BACKGROUND: The clinical diagnostic method for bladder cancer is cystoscopy, an invasive, expensive and inconvenient clinical test. Using urinary cell-free DNA (cfDNA) to develop non-invasive test for bladder cancer was a promising liquid biopsy.

METHODS: To improve the using rate of cfDNA template and decrease the PCR bias for liquid biopsy using urinary cfDNA, we developed a cell-free single-molecule unique primer extension resequencing (cf-SUPER) technology which was done for 29 matched urinary cfDNA and tumor DNA samples of bladder cancer patients to evaluate consistency of mutation profiles. Then, a 22 high mutational frequence genes was selected to form an uriprier panel, which was analyzed in 100 patients (47 bladder cancer cases and 53 controls) using cf-SUPER technology. This performance of the technology was evaluated using bioinformatic tools and clinical samples.

RESULTS: The study showed that cf-SUPER technology can accurately detect mutations with allele fractions even low as 0.01% and the DNA input as low as 1 ng. The consistency of mutation profiles and clinical pathological diagnose between 29 matched urinary cfDNA and tumor DNA samples was respectively 82.76% and 89.66% by using cf-SUPER technology. Using cf-SUPER technology, the sensitivity and specificity were 98%, 94% respectively for uriprier panel in non-invasive test.

CONCLUSIONS: The preliminary work shows that cf-SUPER technology will be a promising method for liquid biopsy. Focusing urinary cfDNA, the non-invasive diagnose and monitoring of bladder cancer can come true by using cf-SUPER technology.

Medienart:

E-Artikel

Erscheinungsjahr:

2020

Erschienen:

2020

Enthalten in:

Zur Gesamtaufnahme - volume:9

Enthalten in:

Translational andrology and urology - 9(2020), 3 vom: 03. Juni, Seite 1222-1231

Sprache:

Englisch

Beteiligte Personen:

Zhao, Cheng [VerfasserIn]
Pan, Yi [VerfasserIn]
Wang, Yinhuai [VerfasserIn]
Li, Yuanwei [VerfasserIn]
Han, Weiqing [VerfasserIn]
Lu, Li [VerfasserIn]
Tang, Wei [VerfasserIn]
Li, Pei [VerfasserIn]
Ou, Zhenyu [VerfasserIn]
Zhang, Mengda [VerfasserIn]
Xiong, Zhuang [VerfasserIn]
Xu, Ran [VerfasserIn]
Lu, Qiang [VerfasserIn]
Xu, Zhenzhou [VerfasserIn]
Qi, Lin [VerfasserIn]
Wang, Long [VerfasserIn]
Xu, Genming [VerfasserIn]

Links:

Volltext

Themen:

Bladder cancer
Journal Article
Next-generation sequencing (NGS)
Non-invasive testing
Single primer extension
Urinary cell-free DNA (urinary cfDNA)

Anmerkungen:

Date Revised 15.04.2022

published: Print

Citation Status PubMed-not-MEDLINE

doi:

10.21037/tau-19-774

funding:

Förderinstitution / Projekttitel:

PPN (Katalog-ID):

NLM31252773X