Case Report

Gastrointestinal Stromal Tumours (GISTs) with KRAS Mutation: A Rare but Important Subset of GISTs

Table 1

Immunohistochemical molecular scenarios in gastrointestinal stromal tumours (GISTs).

Scenarios% of GISTImmunohistochemistryMolecular
KITDOG1SDHBKITPDGFRαSDHBRAFNF1Other

(i) Usual GIST85–90%PosPosRetainedMutatedMutatedWtWtWtWt
(ii) KIT/PDGFRαSDH-deficient GIST10–15%PosPosLostWtWtMutated or methylatedWtWtWt
(iii) KIT/PDGFRα/SDH GIST1-2%PosPosRetainedWtWtWtMutatedMutatedWt
(iv) KIT/PDGFRα/SDH GIST<1%PosPosRetainedWtWtWtWtWtKRAS/PIK3C/NTRK/FGFR etc. mutated
(v)<1%NegNegRetainedMutatedMutatedWtWtWtWt
(vi)RareNegPosRetainedWtMutatedWtWtWtWt
(vii) Very rareNegNegRetainedWtWtWtWtWtWt

Pos = positive; Neg = negative; Wt = wild type;  = KIT or PDGFRα is mutated = BRAF or NF1 is mutated;  = this is a very rare scenario, and all tests should be repeated. Consideration whether this is in fact a GIST should be entertained.