Table 4.
Comparison of star allele-based haplotyping versus gene-wise variant burden (GVBNUDT15 , TPMT) analyses for 6-mercaptopurine intolerance measured by last-cycle dose intensity percent in ALL. Diagnostic accuracy table of (A) star allele-based haplotypes and dose intensity percent groups and (B) gene-wise variant burden score and dose intensity percent groups.
| (A) | ||||
|---|---|---|---|---|
| NUDT15 and TPMT metabolizer | Dose intensity percent groups | Total | ||
| ≤25 | >25 | |||
| PM + IM | 9 | 46 | 55 | PPV 16.36% (9/55) |
| NM | 10 | 179 | 189 | NPV 94.70% (179/189) |
| Total | 19 | 225 | 244 | |
| Sensitivity 47.36% (9/19) |
Specificity 79.56% (179/225) |
Accuracy 77.05% (188/244) |
||
| (B) | ||||
| Gene-wise variant burden score | Dose intensity percent groups | Total | ||
| ≤25 | >25 | |||
| GVBNUDT15,TPMT≤ 0.3 | 10 | 42 | 52 | PPV 19.23% (10/52) |
| GVBNUDT15,TPMT > 0.3 | 9 | 183 | 192 | NPV 95.31% (183/192) |
| Total | 19 | 225 | 224 | |
| Sensitivity 52.63% (10/19) |
Specificity 81.33% (183/225) |
Accuracy 79.10% (193/244) |
||
PM, poor metabolizer; IM, intermediate metabolizer; NM, normal metabolizer; PPV, positive predictive value; NPV, negative predictive value.