Table 1 Genes involved in PPGL pathogenesis

ATRX

<5% (S)

96,98

BRAF

<2% (S)

15,45

CDKN2A

<2% (S)

96

EGLN1/PHD2

<1% (G or S)*

99,100

EPAS1

6–12% (M or S)

19,43,52,77

FGFR1

∼1% (S)

14

FH

1–2% (G)

24,43,101

H3F3A

<2% (M)*

14

HRAS

7–8% (S)

43,102

IDH2

<0.5% (S)

103

KIF1B

<5% (G or S)

18,104,105

KMT2D

<2% (G or S)*

106

MAX

1–2% (G or S)

107

MDH2

<2% (G)*

108

MERTK

<2% (G)*

14

MET

<2% (G) or <2–10% (S)*

14,96

NF1

3% (G) or 20–25% (S)

109,110

RET

5–6% (G or S)

44,111

SDHA

<1% (G or S)

112

SDHAF2

<1%

113

SDHB

8–10% (G)

43,111

SDHC

1–2% (G)

43,47,111

SDHD

5–7% (G)

43,111

TMEM127

1–2% (G)

43,114

TP53

<5% (S)

96

VHL

7–10% (G or S)

43,111