Table 2.
Diagnostic Performance of PancreaSeq Testing and Other Modalities for Serous Neoplasms and PanNETs
| Parameter | Sensitivity, % (95% CI) |
Specificity, % (95% CI) |
PPV, % (95% CI) |
NPV, % (95% CI) |
|---|---|---|---|---|
| Serous cystadenoma/neoplasma | ||||
| VHL alteration in the absence of other alterations | 71 (0.42–0.90) | 100 (0.97–1.00) | 100 (0.66–1.00) | 98 (0.95–1.00) |
| VHL alteration w/ or w/o point mutations in TP53 and TERT promoter | 100 (0.73–1.00) | 100 (0.97–1.00) | 100 (0.73–1.00 | 100 (0.97–1.00) |
| PanNETb | ||||
| MEN1 alteration in the absence of other alterations | 27 (0.14–0.45) | 100 (0.98–1.00) | 100 (0.63–1.00) | 90 (0.85–0.93) |
| LOHc in the absence of other alterations | 59 (0.41–0.75) | 98 (0.95–0.99) | 83 (0.62–0.95) | 94 (0.89–0.96) |
| MEN1 alteration w/ or w/o LOHc in the absence of other alterations | 68 (0.49–0.82) | 98 (0.95–0.99) | 85 (0.65–0.95) | 95 (0.91–0.97) |
| Cytopathology positive for neuroendocrine tumor | 85 (0.68–0.95) | 100 (0.97–1.00) | 97 (0.81–1.00) | 98 (0.94–0.99) |
| MEN1 alteration w/ or w/o LOHc and cytopathology | 97 (0.83–1.00) | 98 (0.95–0.99) | 89 (0.74–0.97) | 100 (0.97–1.00) |
| Metastatic PanNETd | ||||
| LOH of at least 1 genee | 92 (0.60–1.00) | 49 (0.37–0.61) | 23 (0.13–0.38) | 97 (0.84–1.00) |
| LOH of at least 2 genese | 92 (0.60–1.00) | 68 (0.56–0.78) | 32 (0.18–0.51) | 98 (0.88–1.00) |
| LOH of at least 3 genese | 83 (0.51–0.97) | 76 (0.65–0.85) | 37 (0.20–0.57) | 97 (0.87–0.99) |
| LOH of at least 4 genese | 58 (0.29–0.84) | 88 (0.77–0.94) | 44 (0.21–0.70) | 93 (0.83–0.97) |
| LOH of at least 5 genese | 33 (0.11–0.64) | 93 (0.84–0.97) | 44 (0.15–0.77) | 89 (0.80–0.95) |
| Preoperative tumor size >2.0 cm | 92 (0.60–1.00) | 50 (0.38–0.62) | 23 (0.13–0.38) | 97 (0.84–1.00) |
| Preoperative cytopathology WHO grades 2 and 3 | 75 (0.43–0.93) | 74 (0.62–0.83) | 32 (0.17–0.52) | 95 (0.84–0.99) |
a
Based on 246 diagnostically confirmed pancreatic cysts that includes 13 serous cystadenomas and 1 mixed serous cystadenoma-neuroendocrine neoplasm.
b
Based on 246 diagnostically confirmed pancreatic cysts that includes 34 cystic PanNETs.
c
LOH of TP53, SMAD4, PTEN, and/or RNF43.
d
Based on 87 preoperative specimens (34 cystic PanNETs and 53 solid PanNETs) with patient follow-up.
e
LOH of VHL, TP53, SMAD4, PTEN, and/or RNF43.