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Table 8 Summary of samples per cystic structure, size and localisation

From: Non-hotspot PIK3CA mutations are more frequent in CLOVES than in common or combined lymphatic malformations

Cystic structure

Mutation

Hotspot

   

Non-hotspot

No mutation

Total

% mutation

Size*

  

542K

545K

1047

    

Microcystic

48

43

14

15

14

5

14

62

77%

< 10 × 10 cm

20 (7/4/9)

19 (7/3/9)

10

4

5

1 (0/1/0)

9 (3/3/3)

29

69%

> 10 × 10 cm

27 (6/10/11)

23 (5/9/9)

4

11

8

4 (1/1/2)

5 (0/2/3)

32

84%

Unknown

1 (0/1/0)

1 (0/1/0)

0

0

1

0

0

1

100%

Macrocystic

21

21

9

10

2

0

13

34

62%

< 10 × 10 cm

16 (7/2/7)

16 (7/2/7)

6

9

1

0

12 (5/6/1)

28

57%

> 10 × 10 cm

5 (2/1/2)

5 (2/1/2)

3

1

1

0

1 (1/0/0)

6

83%

Unknown

0

0

0

0

0

0

0

0

Mixed

28

26

8

9

9

2

4

32

88%

< 10 × 10 cm

10 (4/3/3)

10 (4/3/3)

4

4

2

0

2 (2/0/0)

12

83%

> 10 × 10 cm

18 (6/4/8)

16 (6/4/6)

4

5

7

2 (0/0/2)

2 (1/0/1)

20

90%

Unknown

0

0

0

0

0

0

0

0

Unknown

11

2

0

1

1

9

4

15

73%

Total

108

92

31

35

26

16

35

143

76%

  1. *Numbers per localisation given between parenthesis: (Head&Neck/Trunk/Extremities). See Tables 6 and 7 for globalized numbers per size and localization. Mutation numbers are subdivided in Hotspot and Non-hotspot, with Hotspot numbers further subdivided per position