Table 1.
Diagnostic Performance of PancreaSeq Testing and Other Modalities Based on 246 Confirmed Pancreatic Cysts
| Parameter | Sensitivity, % (95% CI) |
Specificity, % (95% CI) |
PPV, % (95% CI) |
NPV, % (95% CI) |
|---|---|---|---|---|
| IPMN | ||||
| MAPK/GNAS mutations | 95 (0.91–0.98) | 89 (0.78–0.94) | 95 (0.90–0.97) | 90 (0.42–0.66) |
| Presence of multiple cysts (n = 245)a | 54 (0.46–0.62) | 80 (0.69–0.88) | 85 (0.76–0.91) | 45 (0.37–0.54) |
| Increased fluid viscosity (n = 238)a | 79 (0.72–0.85) | 81 (0.70–0.89) | 89 (0.83–0.94) | 66 (0.55–0.75) |
| Elevated CEA (n = 173)a | 74 (0.65–0.81) | 73 (0.59–0.84) | 86 (0.78–0.92) | 54 (0.42–0.66) |
| IPMN with advanced neoplasia | ||||
| TP53, SMAD4, and/or mTOR gene alterations | 87 (0.78–0.93) | 76 (0.69–0.83) | 68 (0.58–0.76) | 91 (0.84–0.95) |
| TP53, SMAD4, CTNNB1, and/or mTOR gene alterations | 89 (0.80–0.94) | 74 (0.67–0.81) | 67 (0.57–0.75) | 92 (0.86–0.96) |
| MAPK/GNAS mutations with TP53, SMAD4, and/or mTOR gene alterations | 84 (0.75–0.91) | 92 (0.87–0.96) | 86 (0.77–0.93) | 91 (0.85–0.95) |
| MAPK/GNAS mutations with TP53, SMAD4, CTNNB1, and/or mTOR gene alterations | 87 (0.78–0.93) | 91 (0.85–0.95) | 85 (0.75–0.91) | 92 (0.87–0.96) |
| MAPK/GNAS LOH or TP53, SMAD4 and/or mTOR gene AFs = MAPK/GNAS AFs | 86 (0.76–0.92) | 95 (0.90–0.98) | 91 (0.82–0.96) | 92 (0.86–0.96) |
| MAPK/GNAS LOH or TP53, SMAD4, CTNNB1, and/or mTOR gene AFs = MAPK/GNAS AFs | 88 (0.79–0.94) | 94 (0.89–0.97) | 90 (0.81–0.95) | 93 (0.88–0.96) |
| Associated clinical symptoms (n = 244)a | 38 (0.28–0.49) | 71 (0.64–0.78) | 44 (0.33–0.55) | 66 (0.59–0.73) |
| Jaundice (n = 131)b | 31 (0.20–0.44) | 89 (0.78–0.95) | 70 (0.50 – 0.86) | 60 (0.50–0.69) |
| Index cyst size >3.0 cm (n = 242)a | 56 (0.45–0.66) | 55 (0.46–0.63) | 41 (0.32–0.51) | 68 (0.59–0.76) |
| Main pancreatic duct dilatation (n = 244)a | 71 (0.60–0.80) | 65 (0.57–0.73) | 54 (0.44–0.63) | 80 (0.71–0.86) |
| Presence of a mural nodule (n = 245)a | 44 (0.34–0.55) | 80 (0.72–0.85) | 55 (0.43–0.67) | 71 (0.64–0.78) |
| Increasing index cyst size (n = 125)a | 50 (0.34–0.66) | 54 (0.43–0.65) | 36 (0.24–0.49) | 68 (0.55–0.79) |
| Malignant cytopathologyc | 46 (0.35–0.56) | 95 (0.90–0.98) | 84 (0.70–0.92) | 75 (0.68–0.81) |
| IPMN and MCN | ||||
| MAPK/GNAS mutations | 90 (0.85–0.94) | 100 (0.93–1.00) | 100 (0.97–1.00) | 77 (0.66–0.85) |
| Increased fluid viscosity (n = 238)a | 77 (0.70–0.83) | 92 (0.81–0.97) | 97 (0.92–0.99) | 57 (0.47–0.67) |
| Elevated CEA (n = 173)a | 73 (0.64–0.80) | 94 (0.79–0.99) | 98 (0.93–1.00) | 46 (0.34–0.58) |
| IPMN and MCN with advanced neoplasia | ||||
| TP53, SMAD4, and/or mTOR gene alterations | 88 (0.79–0.93) | 79 (0.72–0.85) | 73 (0.74–0.81) | 91 (0.84–0.95) |
| TP53, SMAD4, CTNNB1, and/or mTOR gene alterations | 90 (0.81–0.95) | 77 (0.70–0.84) | 72 (0.63–0.79) | 92 (0.86–0.96) |
| MAPK/GNAS mutations with TP53, SMAD4, and/or mTOR gene alterations | 85 (0.76–0.92) | 96 (0.91–0.98) | 93 (0.85–0.97) | 91 (0.85–0.95) |
| MAPK/GNAS mutations with TP53, SMAD4, CTNNB1, and/or mTOR gene alterations | 88 (0.79–0.93) | 95 (0.89–0.98) | 91 (0.83–0.96) | 92 (0.87–0.96) |
| MAPK/GNAS LOH or TP53, SMAD4, and/or mTOR gene AFs = MAPK/GNAS AFs | 87 (0.78–0.92) | 99 (0.95–1.00) | 98 (0.91–1.00) | 92 (0.86–0.96) |
| MAPK/GNAS LOH or TP53, SMAD4, CTNNB1, and/or mTOR gene AFs = MAPK/GNAS AFs | 89 (0.80–0.94) | 98 (0.94–1.00) | 97 (0.90–0.99) | 93 (0.88–0.96) |
| Associated clinical symptoms (n = 244)a | 38 (0.28–0.48) | 72 (0.64–0.79) | 46 (0.35–0.58) | 64 (0.56–0.71) |
| Jaundice (n = 131)b | 31 (0.20–0.44) | 89 (0.78–0.95) | 70 (0.50–0.86) | 60 (0.50–0.69) |
| Index cyst size >3.0 cm (n = 242)a | 59 (0.48–0.68) | 57 (0.48–0.65) | 46 (0.37–0.56) | 68 (0.59–0.76) |
| Main pancreatic duct dilatation (n = 244)a | 68 (0.58–0.77) | 65 (0.57 – 0.73) | 56 (0.46–0.65) | 76 (0.68–0.83) |
| Presence of a mural nodule (n = 245)a | 45 (0.35–0.56) | 81 (0.74–0.87) | 61 (0.48–0.72) | 70 (0.63–0.77) |
| Increasing index cyst size (n = 125)a | 52 (0.37–0.67) | 56 (0.44–0.67) | 39 (0.27–0.53) | 68 (0.55–0.79) |
| Malignant cytopathologyc | 46 (0.36–0.56) | 97 (0.92–0.99) | 90 (0.77–0.96) | 74 (0.67–0.80) |
NOTE. MAPK genes include KRAS, BRAF, and NRAS; while mTOR genes include PIK3CA, PTEN, and AKT1.
a
n designates the number of patients with data available for analysis.
b
Jaundice was evaluated for patients with a cyst in the pancreatic head, uncinate and/or neck.
c
Malignant cytopathology was defined as at least suspicious for adenocarcinoma.