Patient-specific sequencing panels enable sensitive circulating tumor DNA analysis in rhabdomyosarcoma independent of genetic profile.

This study addresses the need for liquid biomarkers to monitor rhabdomyosarcoma by developing a tumor-informed circulating tumor DNA (ctDNA) sequencing approach tailored to each patient’s genetic profile.

Researchers analyzed 130 plasma samples from twelve pediatric patients and found that ctDNA levels closely correlate with tumor burden and treatment response, becoming undetectable with successful therapy.

Key findings include:

• Increased ctDNA levels preceded clinical relapse.
• ctDNA identified primary resistant disease.
• Patients without relapse remained ctDNA-negative during follow-up.

These results support ctDNA as a highly sensitive and specific biomarker for rhabdomyosarcoma monitoring, effective even in genetically heterogeneous cases without recurrent mutations.