Personalized ctDNA Test Detects Osteosarcoma Relapse Months Earlier Than Imaging

A personalized circulating tumor DNA (ctDNA) test may help detect minimal residual disease (MRD) and predict relapse earlier in patients with osteosarcoma, according to a new study.

Researchers created a custom blood test for each patient by sequencing their tumor and tracking its unique genetic mutations over time. Personalized ctDNA panels were successfully developed for 71 of 83 patients (85.5%).

Patients with detectable ctDNA after surgery had nearly eight times the risk of disease recurrence compared with those who tested negative. The blood test also detected relapse about 93 days earlier than standard imaging in five patients.

Despite these promising findings, the study was limited by its small size, single-center design, short follow-up, and imperfect sensitivity, as some patients relapsed despite negative ctDNA results.

Researchers say personalized ctDNA testing could improve risk assessment but should complement, not replace, routine imaging until larger studies confirm that earlier detection leads to better patient outcomes.