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Table 1 DNA based biomarkers used in follow-up for non muscle invasive bladder cancer patients

From: Current status of genetic urinary biomarkers for surveillance of non-muscle invasive bladder cancer: a systematic review

Reference Patients/samples Recurrence rate Sensitivity(%) Specificity(%) NPV (%) PPV (%) AUC Method Markers
Roupret et al 2008 [13] 40/40 38% 80 (microsatellite)
86 (methylation)
85 (combination)
68 (microsat)
8 (methyl)
86 (combination)
   0.81 (microsat)
0.44 (methyl)
DNA PCR Microsatellitea vs methylationb
Van der Aa et al 2009 [14] 228/815 10.3% 58 73 94 61-77 NA DNA PCR Microsatellite + FGFR3 mutation
Zuiverloon et al 2010 [15] 134/463 9.7% 58 NA 89 25 NA DNA PCR FGFR3 mutationsc
Reinert et al 2012 [16] 158/206 67.4% 87-94 28-47 55-78 72-78 0.68-0.78 DNA PCR Methylation d
Zuiverloon et al 2012 [17] NA/94 69.1% 72.3 55.2 NA NA NA DNA PCR Methylation genes APC_a , TERT_a , TER _b ,EDNRB
Allory et al 2013 [18] 194/395 44.8% 19(FGFR3)
42(TERT)
50(FGFR3+TERT)
73 (TERT)
90(FGFR3)
71(FGFR3+TERT)
NA NA NA DNA PCR Gene mutations (TERT and FGFR3)
Abern et al 2014 [19] 111/111 21.6% 75-79 63-71 92 37-42 0.74 (TWIST1)
0.68 (NID2)
DNA PCR Methylation genes TWIST1, NID2
Su et al 2014 [20] 90/368 37.7% 80 97 NA NA 0.95 DNA PCR Hyper and hypomethylated genes (SOX1, IRAK3, L1-MET)
Fantony et al 2015 [21] 126/126 25% 58-67 61-69 83-85 36-38 0.66 (TWIST1)
0.63 (NID2)
DNA PCR Methylation genes TWIST1, NID2
Beukers et al 2016 [22] NA/2191 64% 57 (LG)
72 (HG)
59% LG NA NA NA DNA PCR FGFR3 mutation, TERT mutation and OTX1 methylation
Roperch et al 2016 [23] 158/613 45.5% 94.5
96 (HG)
75.9 98.5 NA 0.82 DNA PCR FGFR3 mutation +DNA methylation HS3ST2, SLIT2 and SEPTIN9
Van der Heijden et al 2018 [24] NA/458 37.7% 90 31 82 50 0.74 DNA PCR DNA gene Methylation (CFTR, SALL3, TWIST1)
Witjes et al 2018 [25] 353/353 13% 68.2
92.6 (HG)
88 95.1
99.3( HG)
44.8 0.82 DNA PCR 15 DNA methylation genes (Epicheck®)
Springer et al 2018 [26] 322/322 58% 68
71 (HG)
80 NA NA NA DNA PCR 10 gen mutationse plus detection of aneuploidy (UroSEEK®)
D’Andrea et al 2019 [27] 357/357 13.7% 67.3
88.9 (HG)
88
88(HG)
94
99 (HG)
47
30 (HG)
85.9 DNA PCR 15 DNA methylation genes (Epicheck®)
Batista et al 2019 [28] 122/122 28% 73.5 73.2 NA NA NA DNA PCR TERT promoter and FGFR3 mutations
(Uromonitor®)
  1. LG low grade, HG high grade, NA not allowed
  2. aFGA (4q28), D4S171(4q35)), 5 (ACTBP2(5q14)), 9 (D9S162 (9p), IFNA (9p21)), 14 (MJD52(14q32)), 16 (D16S310 (16q21)) and 18 (D18S51 (18q21), MBP (18qter).
  3. b(RASSF1a (3p21.3),E-cadherin (16q22.1), APC (5q21), DAPK (9q22.1), MGMT (10q26), BCL2 (18q21.33), h-TERT (5p15.33), EDNRB (13q22), WIF-1 (12q14.3), TNFRSF25 (1p36.31), IGFBP3 (7p13))
  4. cR248C and S249C (exon 7); G372C,S373C, Y375C, G382R, and A393E (exon 10); and K652M, K652T, K652E, and K652Q (exon 15)
  5. dEOMES, HOXA9, POU4F2, TWIST1, VIM, ZNF154
  6. eFGFR3, TP53, CDKN2A, ERBB2, HRAS, KRAS, PIK3CA, MET, VHL, MLL and TERT promoter.