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

ABSTRACT

Introduction

Diagnosis of echinococcosis is difficult and usually performed based on clinical findings, imaging, and serological test. However, all of them have limitations, especially in follow-up approaches.

Areas covered

Detection of cell-free DNA (cfDNA) and micro-RNA (miRNA) is currently a hot topic for diagnosis of echinococcosis diseases. For detecting cell-free DNA in echinococcosis patient’s samples such as sera, some techniques are based on next-generation sequencing (NGS), DNA-deep sequencing, some are based on PCR-based methods, and a few works related to the detection of miRNA for the diagnosis of human echinococcosis.

Expert opinion

In the detection of cell-free DNA in echinococcosis patient’ samples, NGS and DNA-deep sequencing have shown high level of sensitivity, but are not suitable for routine clinical examination as they are expensive and inaccessible in the majority of endemic areas. However, PCR-based methods have shown a sensitivity of about 20–25%. To improve the sensitivity of these tests, improving the DNA extraction method, designing appropriate primers for detecting short-length fragments of circulating DNA, using a higher volume of a serum sample, and application of more sensitive PCR methods are recommended. In the field of miRNA detection, further works are recommended.

KEYWORDS:

• Echinococcosis
• diagnosis
• Cell-free DNA
• micro RNAs
• NGS
• PCR

Article highlights

• Detection of cell-free DNA is a powerful tool for accurate diagnosis of echinococcosis.

• Detection of the expression pattern of microRNAs of the parasite or host can be appropriate for diagnosis and follow-up of the disease.

• The review outlines that miRNA and cell-free DNA are potential biomarkers for the diagnosis of echinococcosis.

Declaration of interest

The authors have no relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.

Reviewers Disclosure

Peer reviewers on this manuscript have no relevant financial relationships or otherwise to disclose.

Additional information

Funding

Supported by a grant from Isfahan University of Medical Sciences, Grant Number 3991123.