Circulating serum miRNAs as potential biomarkers for nephroblastoma

Area of Science:

• Oncology
• Molecular Biology
• Biomarker Discovery

Background:

• Nephroblastoma (Wilms tumor, WT) is the most common pediatric kidney cancer.
• Current European treatment involves preoperative chemotherapy without biopsy confirmation.
• Minimally invasive diagnostic markers for WT are urgently needed.

Purpose of the Study:

• To identify circulating microRNAs (miRNAs) in serum with diagnostic potential for differentiating WT from controls.
• To establish a miRNA-based signature for accurate WT diagnosis.

Main Methods:

• Quantitative real-time PCR was used to measure the levels of 19 miRNAs in serum samples.
• Serum from 32 WT patients and 12 controls was analyzed.
• A validation set including patients with other renal tumors was used to confirm findings.

Main Results:

• 14 miRNAs were significantly upregulated in WT patients' serum compared to controls.
• MiRs-130b-3p, -100-5p, and -143-3p demonstrated high diagnostic potential (AUCs 0.94, 0.90, 0.89).
• A three-miRNA signature achieved 84.58% accuracy, with a two-miRNA signature (miR-100-5p and miR-130b-3p) showing 79.6% accuracy in validation.

Conclusions:

• Serum miR-100-5p and miR-130b-3p show potential as non-invasive biomarkers for Wilms tumor.
• These miRNA biomarkers are effective irrespective of WT subtype.
• Serum collection methods do not impact the expression levels of these diagnostic miRNAs.