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Table 2 PIK3CA variants allele frequencies in tissues and isolated cells

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

Disease

Sample type

Mutation

VAF (%)

CLVM

Tissue

p.His1047Arg

5

CD31-positive cells (EC)

p.His1047Arg

47

CD31-negative cells

p.His1047Arg

0

LM

Tissue

p.Glu542Lys

11

Unselected cells

p.Glu542Lys

4

CD34-positive cells (BEC)

p.Glu542Lys

17

CD31-positive and CD34-negative cells (LEC)

p.Glu542Lys

32

CD31- and CD34-negative cells

p.Glu542Lys

0

Fibroblasts

p.Glu542Lys

0

  1. VAF, variant allele frequency; EC, endothelial cell; BEC, blood endothelial cell; LEC, lymphatic endothelial cell