Analytic and clinical validity of thyroid nodule mutational profiling using droplet digital polymerase chain reaction

Table 4 Comparative diagnostic performance of pre-operative standard cytology and ddPCR mutation testing

MEASURE	Bethesda III-VI	Bethesda V/VI	BRAFV600E	BRAFV600E + BETHESDA V/VI^b	BRAFV600E + H/NRASQ61K + Bethesda V/VI
Sensitivity	44.7 (30.2–59.9)	41.7 (27.6–56.8)	50 (30.7–69.4)	75.0 (55.1–89.3)	77.8 (57.7–91.4)
Specificity	70.7 (54.5–83.9)	100 (92.6–100)	100 (94.1–100)	100 (94.1–100)	98.4 (91.3–100)
PPV^a	63.6 (49.7–75.6)	100	100	100	95.5 (74.8–99.3)
NPV^a	52.7 (44.6–60.6)	60 (54.1–65.6)	81.3 (75.1–86.3)	89.7 (82.1–94.3)	91 (83.4–95.4)
PLR	1.53 (0.86–2.71)	–	–	–	48.2 (6.8–340.5)
NLR	0.78 (0.6–1.1)	0.6 (0.5–0.8)	0.5 (0.4–0.7)	0.25 (0.1–0.5)	0.2 (0.11–0.5)

NLR negative likelihood ratio, NPV negative predictive value, PLR positive likelihood ratio, PPV positive predictive value
^aBecause the sample sizes in disease positive and disease negative groups may not reflect the true population prevalence of the disease, PPV and NPV may be inaccurate [9]. 95% confidence interval is shown in brackets where appropriate
^bCombined BRAF and Bethesda V/VI classifies test as positive if BRAFV600E and/or Bethesda V/VI is present

ISSN: 1916-0216