Application of miRNAs in the diagnosis and monitoring of testicular germ cell tumours

Testicular germ cell tumours (TGCTs) are the most frequent cancer type in young men and originate from the common precursor germ cell neoplasia in situ (GCNIS). For decades, clinical management of patients with TGCT has relied on classic serum tumour markers: alpha-fetoprotein, human chorionic gonadotropin subunit-beta and lactate dehydrogenase. In the past 10 years, microRNAs have been shown to outperform classic serum tumour markers in the diagnosis of primary tumours and in follow-up monitoring and prediction of relapse. miR-371a-3p is the most consistent marker and exhibits >90% diagnostic sensitivity and specificity in TGCT. However, miR-371a-3p cannot be used to diagnose GCNIS or mature teratoma. Future efforts must technically standardize the microRNA-based methods internationally and introduce miR-371a-3p as a molecular liquid biopsy-based marker for TGCTs in the clinic. Here, the authors discuss embryonic microRNAs that are highly expressed in testicular germ cell tumours, critically assess the clinical utility of monitoring these microRNAs in the circulation and compare their diagnostic performance with the classic serum tumour markers.