Diagnosis of echinococcosis by detecting circulating cell-free DNA and miRNA

Hadipour, Mahboubeh; Harandi, Majid Fasihi; Mirhendi, Hossein; Darani, Hossein Yousofi

doi:10.1080/14737159.2023.2178903

Cited by 3 publications

(7 citation statements)

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“…Our study is the first meta-analysis and systematic assessment of the feasibility of cfDNA as a diagnostic tool for echinococcosis, although several reviews have described some aspects ( Zhao et al, 2021 ; Hadipour et al, 2023 ). After careful screening of the 64 articles from the initial search, we ended up with seven articles on the diagnostic accuracy of cfDNA for echinococcosis.…”

Section: Discussionmentioning

confidence: 99%

Circulating free DNA as a diagnostic marker for echinococcosis: a systematic review and meta-analysis

Luo,

Jiang,

et al. 2024

Front. Microbiol.

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IntroductionEchinococcosis is a chronic zoonotic disease caused by tapeworms of the genus Echinococcus. The World Health Organization (WHO) has identified encapsulated disease as one of 17 neglected diseases to be controlled or eliminated by 2050. There is no accurate, early, non-invasive molecular diagnostic method to detect echinococcosis. The feasibility of circulating free DNA as a diagnostic method for echinococcosis has yielded inconclusive results in a number of published studies. However, there has been no systematic evaluation to date assessing the overall performance of these assays. We report here the first meta-analysis assessing the diagnostic accuracy of cfDNA in plasma, serum, and urine for echinococcosis.MethodsWe systematically searched PubMed, Embase, Cochrane Library, China National Knowledge Infrastructure (CNKI), and WeiPu databases up to 17 January 2024, for relevant studies. All analyses were performed using RevMan 5.3, Meta-DiSc 1.4, Stata 17.0, and R 4.3.1 software. The sensitivity, specificity, and other accuracy indicators of circulating free DNA for the diagnosis of echinococcosis were summarized. Subgroup analyses and meta-regression were performed to identify sources of heterogeneity.ResultsA total of 7 studies included 218 patients with echinococcosis and 214 controls (156 healthy controls, 32 other disease controls (non-hydatid patients), and 26 non-study-targeted echinococcosis controls were included). Summary estimates of the diagnostic accuracy of cfDNA in the diagnosis of echinococcosis were as follows: sensitivity (SEN) of 0.51 (95% CI: 0.45–0.56); specificity (SPE) of 0.99 (95% CI: 0.97–0.99); positive likelihood ratio (PLR) of 11.82 (95% CI: 6.74–20.74); negative likelihood ratio (NLR) of 0.57 (95% CI: 0.41–0.80); diagnostic ratio (DOR) of 36.63 (95% CI: 13.75–97.59); and area under the curve (AUC) value of 0.98 (95% CI: 0.96–1.00).ConclusionExisting evidence indicates that the combined specificity of circulating cfDNA for echinococcosis is high. However, the combined sensitivity performance is unsatisfactory due to significant inter-study heterogeneity. To strengthen the validity and accuracy of our findings, further large-scale prospective studies are required.Systematic review registrationThe systematic review was registered in the International Prospective Register of Systematic Reviews PROSPERO [CRD42023454158]. https://www.crd.york.ac.uk/PROSPERO/.

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Section: Discussionmentioning

confidence: 99%

Circulating free DNA as a diagnostic marker for echinococcosis: a systematic review and meta-analysis

Luo,

Jiang,

et al. 2024

Front. Microbiol.

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“…with high accuracy [ 33 ]. The limited studies have detected Echinococcus cfDNA in human patients, using PCR-based methods, next-generation sequencing (NGS), and DNA-deep sequencing [ 25 ]. NGS and DNA-deep sequencing has demonstrated high sensitivity, but due to costs and inaccessibility in most endemic areas, they are not appropriate for routine clinical examination.…”

Section: Discussionmentioning

confidence: 99%

“…It is estimated that the size of cfDNA varies from ~40–200 base pairs (bp), with a dominant peak of 166 bp. The concentration of cfDNA in 1 mL of human plasma in normal conditions is estimated to be around 1~10 ng; however, under certain circumstances (more cell death and/or deficient removal of the dead cells) or after exercise, the concentration increases to hundreds of nanograms [ 25 ]. They have a half-life of about 10–15 min and are typically removed by the liver.…”

Section: Introductionmentioning

confidence: 99%

“…However, PCR or qPCR methods for detecting Echinococcus cfDNA in patients' sera have shown limited sensitivity, with reported rates of 20-25%. Thus, these methods have yet to be improved and established as reliable diagnostic tools for echinococcosis [25]. To address this issue, our study aimed to enhance molecular techniques' sensitivity, specificity, and diagnostic validity for detecting E. granulosus sensu lato cfDNA.…”

Section: Introductionmentioning

confidence: 99%

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Sensitive detection of specific cell-free DNA in serum samples from sheep with cystic echinococcosis

Hadipour,

Darani,

Talebzadeh

et al. 2023

PLoS Negl Trop Dis

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Background Developing more sensitive methods for the diagnosis of echinococcosis is essential. In this study PCR assay for sensitive detection of specific cell-free DNA (cfDNA) of Echinococcus granulosusin sensu lato in the sera of the sheep naturally infected with echinococcosis was investigated. Methods To extract cfDNA from 35 infected sheep, the modified phenol-chloroform method was used for two different volumes (0.5 and 2 ml) of serum samples. From each extracted sample, two DNA volumes (5 and 10 μl) were amplified using both standard PCR and semi-nested PCR targeting NADH dehydrogenase subunit I. Results Standard and semi-nested PCR on 0.5 ml of serum samples detected Echinococcus DNA in 8 and 12 out of 35 sheep, respectively; however, using 2 ml of serum samples, they detected 24 and 27 samples. By increasing the volume of template DNA, the PCRs could detect 29 and 33 out of 35 samples. The results were confirmed by sequencing of randomly selected PCR amplicons and comparing them with GenBank databases. Conclusions Larger volumes of serum for DNA extraction, greater volumes of DNA template for PCR, and employing a semi-nested PCR protocol, increased the sensitivity of PCR to 95%. This approach can also be applied to the diagnosis of echinococcosis in humans.

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“…In recent developments, cell-free DNA (cfDNA) and cell-free miRNA (cf-miRNA) have shown promise in diagnosing various diseases, including heart disease, kidney disease, infections, and several cancers [6][7][8][9].…”

Section: Investigation Of Plasma Cell-free Dna and Mirna In Cholangio...mentioning

confidence: 99%

Investigation of Plasma Cell-Free DNA and MiRNA in Cholangiocarcinoma and Opisthorchiasis Viverrini Patients

Prasopdee,

Pholhelm,

Yusuk

et al. 2024

Asian Pac J Cancer Prev

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Objectives: This study aimed to assess the diagnostic potential of cell-free DNA (cfDNA) and cell-free miRNA (cf-miRNA) for distinguishing between Healthy, asymptomatic opisthorchiasis viverrini and cholangiocarcinoma in a preliminary manner. Methods: In this study, 36 participants were enrolled into three health status groups: a healthy control group (HC), Opisthorchis viverrini-infected group (OV), and a cholangiocarcinoma group (CCA), each comprising 12 participants. Concentration measurements of cfDNA and cf-miRNA from plasma were conducted. Additionally, ultra-low-pass whole-genome sequencing (ULP-WGS) was employed to investigate DNA alterations. Results:The study revealed a significant elevation in plasma cfDNA concentration in the cholangiocarcinoma (CCA) group compared to healthy controls (HC) and Opisthorchis viverrini-infected (OV) groups (P < 0.001). The cfDNA concentration demonstrated a sensitivity of 75.00% and specificity of 95.83% for differentiating cholangiocarcinoma, with a cut-off of > 30.50 ng/ml plasma. Likewise, the concentration of cf-miRNA in the CCA group significantly differed from that in the HC and OV groups, demonstrating a sensitivity of 83.33% and specificity of 95.83% with a cut-off set at > 70.50 ng/ml plasma. Furthermore, a positive correlation between plasma concentrations of cfDNA and cf-miRNA suggests a potential relationship between these two biomarkers. These findings indicated the diagnostic potential of cfDNA and cf-miRNA in distinguishing cholangiocarcinoma, emphasizing their role as promising biomarkers for further investigation and clinical applications. Conclusion: Elevated plasma concentrations of cfDNA and cf-miRNA could serve as potential diagnostic tools for distinguishing cholangiocarcinoma from other conditions. cf-miRNA was superior to cfDNA in terms of sensitivity.

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Diagnosis of echinococcosis by detecting circulating cell-free DNA and miRNA

Cited by 3 publications

References 113 publications

Circulating free DNA as a diagnostic marker for echinococcosis: a systematic review and meta-analysis

Circulating free DNA as a diagnostic marker for echinococcosis: a systematic review and meta-analysis

Sensitive detection of specific cell-free DNA in serum samples from sheep with cystic echinococcosis

Investigation of Plasma Cell-Free DNA and MiRNA in Cholangiocarcinoma and Opisthorchiasis Viverrini Patients

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