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Table 4 Comparison of sensitivities of FGFR3 mutations, methylation, and combined markers according to stage and grade

From: Promoter hypermethylation of HS3ST2, SEPTIN9 and SLIT2 combined with FGFR3 mutations as a sensitive/specific urinary assay for diagnosis and surveillance in patients with low or high-risk non-muscle-invasive bladder cancer

A. Diagnosis study

Primary tumor (n = 167)

 Markers

Tumor stage, % (no.)

Tumor grade, % (no.)

pTa (n = 126)

pT1 (n = 25)

CIS (n = 6)

Other (n = 10)

Low (n = 100)

High (n = 67)

  FGFR3

   All mutations

46.0 (58)

28.0 (7)

16.7 (1)

30.0 (3)

53.0 (53)

23.9 (16)

   S249C

69.0 (40)

42.8 (3)

  

62.2 (33)

62.5 (10)

   Y375C

13.8 (8)

28.6 (2)

 

33.3 (1)

17.0 (9)

12.5 (2)

   R248C

10.3 (6)

28.6 (2)

100 (1)

33.3 (1)

11.3 (6)

25.0 (4)

   G372C

5.2 (3)

   

5.7 (3)

 

   S249C/R248C

1.7 (1)

   

1.9 (1)

 

   S249C/Y375C

   

33.3 (1)

1.9 (1)

 

   Methylation

90.5 (114)

100 (25)

100 (6)

90.0 (9)

89.0 (89)

100 (67)

   Combined markers

94.4 (119)

100 (25)

100 (6)

90.0 (9)

94.0 (94)

100 (67)

B. Follow-up study

Recurrence (n = 72)

 Markers

pTa (n = 55)

pT1 (n = 11)

CIS (n = 2)

Other (n = 4)

Low (n = 47)

High (n = 25)

  FGFR3

   All mutations

43.6 (24)

36.4 (4)

 

50.0 (2)

46.8 (22)

32.0 (8)

   S249C

58.3 (14)

100 (4)

  

54.6 (12)

75.0 (6)

   Y375C

20.8 (5)

   

13.7 (3)

25.0 (2)

   R248C

16.7 (4)

  

50.0 (1)

22.7 (5)

 

   G372C

4.2 (1)

   

4.5 (1)

 

   S249C/R248C

   

50.0 (1)

4.5 (1)

 

   Methylation

89.1 (49)

90.9 (10)

100 (2)

50.0 (2)

85.1 (40)

96.0 (24)

   Combined markers

96.4 (53)

100 (11)

100 (2)

50.0 (2)

93.6 (44)

96.0 (24)