Fig. 5: Composite representations of ctDNA findings in a FP-RMS patients for fusion reads and SNV detection. | npj Precision Oncology

Fig. 5: Composite representations of ctDNA findings in a FP-RMS patients for fusion reads and SNV detection.

From: Sequential genomic analysis using a multisample/multiplatform approach to better define rhabdomyosarcoma progression and relapse

Fig. 5

Clinical timelines, relapse status, and treatment course are color-coded. Liquid biopsy details include cfDNA concentration (blue curve), sample type, fusion read number and other genomic data. Upper panel (green curve): fusion read number decreases during first- or second-line therapy, then gradually increases as the patient develops treatment resistance, with major read number escalation at palliative care stage. Lower panel (shades of green heatmap): showing RB1 SNVs detected at relapse and identified throughout patient-care, following a similar detection pattern variation as observed with the fusion reads number. ctDNA SNVs detected by DNA-based custom targeted panel (4000X coverage); color-coding (green) intensity relates to the variant allele ratio (VAR) in plasma. Data not available for primary tumor (first column) in this patient.

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