Table 3. Mutations details.
| Mutations | Number of samples with mutation | |||||||
|---|---|---|---|---|---|---|---|---|
| CDS mutation | AA variation | Cosmic ID | Frequency* | HRM† | RT-ASA | NGS | IdyllaTM | IHC |
| c.1799T>A | p.Val600Glu | COSM476 | 80~90% | 21 | 25 | 25 | 25 | 24 |
| c.1798_1799delinsAA | p.Val600Lys | COSM473 | 8% | 3 | 3 | 3 | 3 | 2 |
| c.1789_1790delinsTC | p.Leu597Ser | COSM1126 | < 1% | 1 | 0 | 1 | 0 | 0 |
| c.1796_1799delinsTAGA | p.Thr599_Val600delinsIleGlu | n/a | n/a | 1 | 1 | 1 | 1 | 1 |
| c.1797delinsTACT | p.Thr599delinsThrThr | n/a | n/a | 1 | 0 | 1 | 0 | 0 |
*According to COSMIC database
† One sample is considered as false positive with HRM and is not mentioned in this table Sp, Se, PPV and NPV for each of the four validated assays are summarized in Table 4. Lower specificity and PPV were seen when using HRM. IdyllaTM and RT-ASA yielded the highest sensitivity and NPV. Based on V600 cases, calculated Se, Sp, PPV and NPV were 100% for IdyllaTM and RT-ASA and 93.1%, 100%, 100% and 93.8% for IHC for Se, Sp, PPV and NPV respectively.