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. 2012 Sep;3(3):189–208. doi: 10.3978/j.issn.2078-6891.2012.031

Table 2. Molecular classification of GISTs (134)*.

Genetic type Relative frequency        Anatomic distribution
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

Adopted from Corless and colleagues [ref (134) Table 1]. Abbreviation: GIST, gastrointestinal stromal tumor; NF1, neurofibromatosis type I; PDGFRA, platelet-derived growth factor receptor- ; SDH, succinate dehydrogenase