Testicular cancer articles from across Nature Portfolio

The molecular features and tumour microenvironment (TME) in seminoma remain to be characterised. Here, the authors perform single cell multi-omics and spatial transcriptomics and identify key gene expression programmes, immune cell subtypes and potential therapeutic targets.

Genomic landscape studies of malignant germ cell tumors (GCTs) that occur in children, adolescents and young adults are limited. Here the authors perform multi-omics profiling of different types of GCTs across the age spectrum from 0–24 years and show that WNT signalling pathway is activated in GCTs and is associated with poor clinical outcomes.

This Review summarizes current knowledge regarding salvage high-dose chemotherapy in relapsed germ cell tumours. The authors outline data from phase I and II clinical trials, phase III randomized trials and retrospective datasets, discuss controversies and provide recommendations.

The current serum tumour markers α-fetoprotein, human chorionic gonadotrophin, and lactate dehydrogenase show limited value for testicular cancer relapse detection. A recent study highlights that false-positive elevations in follow-up monitoring are common and, conversely, many patients do not have elevations despite proven relapse. These findings highlight the potential for circulating microRNAs to be used as improved biomarkers for relapse detection.

Current clinical issues in testicular germ cell tumour management include limited sensitivity and specificity of conventional biomarkers and, therefore, reliance on serial CT imaging in follow-up monitoring, as well as poor ability to risk stratify patients. Circulating microRNAs are likely to help overcome these challenges and, importantly, could offer cost savings to health-care systems.

A polygenic risk score (PRS) analysis reported that familial testicular germ cell tumours (TGCTs) were significantly enriched for TGCT risk alleles and that ≥84% were attributable to polygenic enrichment, supporting the polygenic aetiological basis of familial TGCT. Clinical application will first require improved TGCT screening and early detection tools.