Table 1

Clinicopathological characteristics of training and validation cohorts based on the absence (negative) versus presence (positive) of genomic alterations

Patient or bile duct characteristicsTotal, n=252 Training cohortValidation cohort
Negative
(n=35, 61%)
Positive
(n=22, 39%)
P valueNegative
(n=104, 53%)
Positive
(n=91, 47%)
P value
Gender
 Female11217 (63)10 (37)1.00047 (55)38 (45)0.666
 Male14018 (60)12 (40)57 (52)53 (48)
Mean age (range), years67.2 (15–96)65.5 (26–96)68.7 (51–92)0.46964.3 (15–89)71.0 (33–96)<0.001
History of PSC418 (67)4 (33)0.75023 (79)6 (21)0.002
CA 19–9≥44 U/mL (n=218)*13410 (47)16 (53)0.00247 (44)61 (56)0.013
CA 19–9>129 U/mL (n=218)*966 (32)13 (68)0.00228 (36)49 (64)0.001
Location of stricture
 Intrahepatic389 (60)6 (40)1.00013 (57)10 (43)0.219
 Hilar477 (58)5 (42)14 (40)21 (60)
 Distal16719 (63)11 (37)77 (56)60 (44)
Malignant biliary brushing/biopsy†745 (31)11 (69)0.00612 (21)46 (79)<0.001
Clinical and diagnostic pathology follow-upn=220 n=35 n=22 n=76 n=87
 Intrahepatic cholangiocarcinoma220 (0)5 (100)<0.001†5 (29)12 (17)<0.001†
 Perihilar cholangiocarcinoma265 (42)7 (58)3 (21)11 (79)
 Distal cholangiocarcinoma476 (50)6 (50)11 (31)24 (69)
 Mixed HCC-cholangiocarcinoma10 (0)1 (100)
 Pancreatic ductal adenocarcinoma330 (0)3 (100)6 (20)24 (80)
 Gallbladder adenocarcinoma112 (67)1 (33)3 (37)5 (63)
 Ampullary adenocarcinoma70 (0)7 (100)
 Metastatic colonic adenocarcinoma10 (0)1 (100)
 High-grade biliary dysplasia20 (0)2 (100)
 Benign cholangiopathy7022 (100)0 (0)48 (100)0 (0)
  • *Serum CA19-9 was measured for 218 of 252 (87%) patients.

  • †Malignant biliary brushing/biopsy is defined as at least high-grade dysplasia/suspicious for adenocarcinoma.

  • CA19-9, carbohydrate antigen 19–9; HCC, hepatocellular carcinoma; PSC, primary sclerosing cholangitis.