Table 2.
Detection Rates of Mutations by RNA Sequencing Analysis Compared with Targeted DNA Sequencing in 91 Thyroid Samples (47 Tissue and 44 Fine-Needle Aspiration Samples)
| Gene/variants | Variants detected by targeted DNA sequencing | Variants detected by RNA-Seq | RNA-Seq (PPAa) |
|---|---|---|---|
| BRAF | 27 | 13 | 48% (29–67%) |
| RAS (NRAS, HRAS, KRAS) | 25 | 19 | 76% (59–93%) |
| TERT | 23 | 0 | 0% |
| TP53 | 16 | 12 | 75% (54–96%) |
| EIF1AX | 15 | 6 | 40%(15–65%) |
| PTEN | 6 | 3 | 50% (10–90%) |
| PIK3CA | 3 | 1 | 33% (0–87%) |
| TSHR | 2 | 2 | 100% |
| DICER1 | 1 | 1 | 100% |
| All variants | 118 | 57 | 48% (39–57%) |
a
PPA is accuracy of detection of cancer-related genomic variants by RNA-Seq, which is calculated as a percentage of variants detected by RNA-Seq out of all genomic variants detected by DNA sequencing (targeted next generation sequencing panel).