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Table 1 Patients cohort and PIK3CA mutations per pathology

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

Pathology

LM

LVM

CLM

CLVM

KTS

CLOVES

PROS

UVA

All

Cohort

105

3

1

7

4

14

7

2

143

Mutation

78

3

6

4

12

5

108

No mutation

19

1

1

2

2

2

27

Inconclusive

8

8

% with a mutation

74.3%

100%

0%

85.7%

100%

85.7%

71.4%

0%

75.5%

VAF median

3.71

4.59

7.34

8.12

12.90

11.09

4.05

Standard deviation

4.49

2.52

6.53

6.27

7.30

5.65

4.85

VAF range

0.54–11.34

3.43–8.25

4.71–22.19

1.15–13.17

2.00–25.33

1.00–13.00

0.54–25.33

Hotspot mutations

74

3

0

6

3

5

1

0

92

Non-hotspot mutations

4

0

0

0

1

7

4

0

16

PIK3CA Domain

Mutation

LM

LVM

CLM

CLVM

KTS

CLOVES

PROS

UVA

All

ABD

F83S

      

1

 

1

 ABD

P104L

     

1

  

1

 

E110del

1

   

1

   

2

 

G118D

      

1

 

1

 

Y165C

     

1

  

1

C2

C420R

      

1

 

1

 C2

E453K

     

1

  

1

 

E494K

      

1

 

1

Helical

E542K

26

3

   

1

1

 

31

 Helical

E545K

27

  

3

3

1

  

34

 Helical

E545G

1

       

1

 Helical

Q546K

2

       

2

 Helical

Q546R

1

       

1

 

E76K

     

1

  

1

Kinase

G914R

     

1

  

1

 Kinase

Y1021H

     

1

  

1

 Kinase

T1025A

     

1

  

1

 Kinase

H1047R

17

  

3

 

3

  

23

 Kinase

H1047L

3

       

3

  1. Bold: hotspot mutations. Protein domains based on https://www.uniprot.org/uniprot/P42336: ABD, p85α-binding domain (amino acids 16–105); C2, C2-PIK3C-type domain (330–487); Helical, Helical domain (517–694); Kinase, Kinase domain (797–1068). See also Fig. 2