Single-cell analysis finds hidden aggressive RMS cells — SkimNews
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- Wellcome Trust Sanger Institute researchers compared tumors from 16 children with rhabdomyosarcoma, a disease with roughly 55 UK diagnoses a year: four fusion-negative fatal cases, four fusion-positive tumors and eight fusion-negative cases in children who remained alive.
- Single-cell RNA sequencing and spatial transcriptomics revealed that some fusion-negative tumors contained cells with gene-activity patterns closely resembling those of high-risk, fusion-positive tumors.
- Karin Straathof said tumors with different genetic changes often converged on the same aggressive pathways, explaining devastating outcomes in children whose tumors lacked the usual high-risk marker.
- Sam Behjati said the study shows an overarching aggressive cell state that defies conventional classification systems based on one abnormal gene.
- Cell-state signatures at diagnosis could flag a greater risk of relapse or death even when standard genetic tests suggest otherwise, while helping genuinely lower-risk children avoid unnecessary intensive chemotherapy.
- Wellcome Trust Sanger Institute researchers are expanding the work to hundreds of additional tumor samples and investigating targeted treatments; immunotherapy, including CAR-T, remains a possible direction requiring further development and testing in rhabdomyosarcoma.
Why it matters: The 16-child study gives clinicians a biological basis for supplementing fusion-only risk assessment in a disease responsible for roughly 55 UK diagnoses each year. Shared aggressive signatures distinguished hidden high-risk disease in the sample and offer a route to spare genuinely lower-risk children unnecessary treatment, while that clinical application still requires validation.
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