Table 1.
Test Performance of Targeted Next-generation Sequencing and Allele-specific PCR for MYD88L265P in WM Patients
| AS-PCR | NGS | ||
|---|---|---|---|
| CD19-selected BM | Unselected BM | Unselected BM | |
| True positive, no | 391 | 377 | 259 |
| True negative, no | 24 | 24 | 24 |
| False positive, no | 0 | 0 | 0 |
| False negative, no | 0 | 14 | 132 |
| Concordance (κ), % | Ref. | 97 (0.76) | 68 (0.19) |
| Sensitivity (95% CI), % | Ref. | 96 (94–98) | 66 (61–71) |
| Specificity (95% CI), % | Ref. | 100 (83–100) | 100 (83–100) |
| PPV (95% CI), % | Ref. | 100 (99–100) | 100 (98–100) |
| NPV (95% CI), % | Ref. | 63 (46–78) | 15 (10–22) |
Results from both AS-PCR and targeted NGS with unselected bone marrow aspirate samples were compared against AS-PCR with CD19-selected bone marrow aspirate samples for MYD88L265P.
AS-PCR = allele-specific polymerase chain reaction; BM = bone marrow; CI = confidence interval; NGS = next-generation sequencing; NPV = negative predictive value; PPV = positive predictive value.