KIT mutation (relative frequency 75-80%)
|
|
|
Exon 8
|
Rare
|
Small intestine
|
Exon 9 insertion AY502-503
|
10%
|
Small intestine and colon
|
Exon 11 (deletion, single nucleotide substitution and insertions
|
67%
|
All sites
|
Exon 13 K642E
|
1%
|
All sites
|
Exon 17 D820Y, N822K and Y823D
|
1%
|
All sites
|
PDGFRA mutation (relative frequency 5-8%)
|
|
|
Exon 12 (such as V561D)
|
1%
|
All sites
|
Exon 14 N659K
|
<1%
|
Stomach
|
Exon 18 D842V
|
5%
|
Stomach, mesentery and momentum
|
Exon 18 (such as deletion of amino acids IMHD 842-846
|
1%
|
All sites
|
KIT and PDGFRA wild-type (relative frequency 12-15%
|
|
|
BRAF V600E
|
~7-15%
|
|
SDHA, SDHB, SDHC and SDHD mutations
|
~2%
|
Stomach and small intestine
|
HRAS and NRAS mutation
|
<1%
|
|
Sporadic pediatric GISTs
|
~1%
|
Stomach
|
GISTs as part of the Carney triad
|
~1%
|
Stomach
|
NF1-related |
Rare |
Small intestine |