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Table 1 The results of sequence analysis for BRAF V600 mutations

From: BRAF V600 mutations in Langerhans cell histiocytosis with a simple and unique assay

    

Sequence analysis

Patient NO.

Sex

Age (year)

Tumor content (%)

(A)PCR

(B) PCR+ TspRI(-)

(C) PCR+ TspRI(+)

5

M

1

73.3

(+)

(+)

(+)

13

F

1

73.7

(+)

(-)

(+)

16

M

1

21.1

(+)

(+)

(+)

19

M

2

80.8

(+)

(+)

(+)

32

M

2

90.6

(+)

(+)

(+)

3

M

2

11.8

(+)?

(-)

(+)GAT

6

F

2

58.0

(+)?

(-)

(+)

10

M

5

70.5

(+)?

(-)

(+)

29

M

5

75.6

(+)GAT?

(+)GAT?

(+)GAT

12

F

17

-

(-)

(-)

(+)

15

F

1

31.7

(-)

(-)

(+)

17

M

0

-

(-)

(-)

(+)

20

F

1

12.5

(-)

(-)

(+)

23

M

14

16.3

(-)

(-)

(+)

24

F

6

43.5

(-)

(-)

(+)

25

F

12

43.0

(-)

(-)

(+)

28

F

9

56.1

(-)

(-)

(+)

30

M

2

10.9

(-)

(-)

(+)

31

M

2

24.8

(-)

(-)

(+)

1

F

13

42.5

(-)

(-)

(-)

2

M

1

58.5

(-)

(-)

(-)

4

M

3

53.1

(-)

(-)

(-)

7

F

0

4.3

(-)

(-)

(-)

8

F

4

39.7

(-)

(-)

(-)

9

F

3

27.0

(-)

(-)

(-)

11

F

4

-

(-)

(-)

(-)

14

M

2

100.0

(-)

(-)

(-)

18

F

0

-

(-)

(-)

(-)

21

M

14

48.9

(-)

(-)

(-)

22

F

11

41.0

(-)

(-)

(-)

26

M

12

57.7

(-)

(-)

(-)

27

F

5

83.0

(-)

(-)

(-)

  1. (A) Sequence analysis after primary PCR amplification. Five samples were V600E mutation (+), 23 were mutation (-), and four were ambiguous. (B) Sequence analysis after secondary PCR without TspRI treatment. Four samples were V600E mutation (+), 27 were mutation (-), and one was ambiguous, (C) Sequence analysis after secondary PCR following TspRI digestion. Nineteen samples were mutation (+) and 13 were mutation (-). All four cases that produced ambiguous results after the primary PCR were found to be mutation (+) using our method and ten cases initially classified as mutation (-) were found to be mutation (+). In addition, two mutation (+) samples were shown to have V600D (GTG to GAT) mutations