| Summary: | Circulating tumour DNA (ctDNA) analysis using next generation sequencing (NGS) is being implemented in clinical practice for treatment stratification and disease monitoring. However, using ctDNA to detect structural variants, a common occurrence in sarcoma, can be challenging. Here, we use a sarcoma-specific targeted NGS panel to identify translocations and copy number variants in a cohort of 12 tissue specimens and matched circulating cell-free DNA (cfDNA) from soft tissue sarcoma patients, including alveolar rhabdomyosarcoma (<i>n</i> = 2), Ewing’s Sarcoma (<i>n</i> = 2), synovial sarcoma (<i>n</i> = 2), extraskeletal myxoid chondrosarcoma (<i>n</i> = 1), clear cell sarcoma (<i>n</i> = 1), undifferentiated round cell sarcoma (<i>n</i> = 1), myxoid liposarcoma (<i>n</i> = 1), alveolar soft part cell sarcoma (<i>n</i> = 1) and dedifferentiated liposarcoma (<i>n</i> = 1). Structural variants were detected in 11/12 (91.6%) and 6/12 (50%) of tissue and plasma samples, respectively. Structural variants were detected in cfDNA at variant allele frequencies >0.2% with an average sequencing depth of 1026×. The results from this cohort show clinical potential for using NGS in ctDNA to aid in the diagnosis and clinical monitoring of sarcomas and warrant additional studies in larger cohorts.
|
|---|
