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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.