Variants detected at initial diagnosis of nonrelapsing and relapsing pediatric patients with T-ALL. Clonal variants (AF ≥ 30%) are shown in dark, and subclonal variants (AF < 30%) in light colors. Patients who did not carry variants of the genes analyzed are not included in this figure. The proportion of patients carrying variants of the respective genes is displayed in a percentage. Patients who carried >1 mutation of the same gene are depicted with mixed color codes. P values were calculated by χ2 test. Light red, subclonal missense variant; dark red, clonal missense variant; light blue, subclonal InDel; dark blue, clonal InDel; light orange, subclonal splicing variants; dark orange, clonal splicing variants; light green, subclonal stop-gain variants; and dark green, clonal stop-gain variants. (A) Variants found in cohort 1 of 81 relapsing and 79 matched nonrelapsing patients with T-ALL at initial diagnosis. TP53 variants were found in 6 relapsing and in none of the nonrelapsing patients (P = .014). RAS variants were found in 19 relapsing and in 9 nonrelapsing patients (P = .032). (B) Variants found in cohort 2 with 226 unselected consecutive patients with T-ALL at initial diagnosis of whom 196 were nonrelapsing and 30 relapsing. Variants of the target genes were identified in 48 of 196 nonrelapsing and 8 of 30 relapsing patients. Differences in variant frequency were not significant for any of the variants. InDel, insertion/deletion.
