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. 2013 Jan 26;17(1):9–19. doi: 10.1007/s40291-013-0018-7

Table 1.

Molecular classification of gastrointestinal stromal tumors (GISTs) according to v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog (KIT) and platelet-derived growth factor receptor, alpha polypeptide (PDGFRA) mutational status

Genotype Features
KIT mutations (75–80 % of sporadic GISTs)
 Exon 11 Most common mutation in sporadic GISTs (65–70 %); present in tumors localized at all gastrointestinal sites; best response to imatinib; also reported in familial GISTs
 Exon 9 More common in GISTs originating from the small bowel/colon; intermediate/dose-dependent response to imatinib in advanced GISTs
 Exon 13 Present in tumors localized at all gastrointestinal sites; observed clinical responses to imatinib; reported in familial GISTs; more often as secondary mutations in imatinib-resistant tumors
 Exon 17 Present in tumors localized at all gastrointestinal sites; observed clinical responses to imatinib (except for p.D816V); reported in familial GISTs; more often as secondary mutations in imatinib-resistant tumors
PDGFRA mutations (5–13 % of sporadic GISTs)
 Exon 12 Present in tumors localized at all gastrointestinal sites; observed clinical responses to imatinib
 Exon 14 Only a few cases described in the literature; more common in GISTs originating from the stomach
 Exon 18 More common in GISTs originating from the stomach, usually with epithelioid morphology; often related to indolent clinical behavior; p.D842V is the most common and is resistant to imatinib; other exon 18 mutations are sensitive to imatinib
KIT/PDGFRA wild type Frequent in pediatric GISTs; poor response to imatinib; typical for GISTs related to neurofibromatosis type 1, Carney’s triad (gastric GIST + pulmonary chondroma ± paraganglioma), or Carney-Stratakis syndrome (GIST + paraganglioma, characterized by mutations in genes encoding SDH subunits SDHA, SDHB, SDHC, SDHD), and/or IGF1R expression

IGF1R insulin-like growth factor 1 receptor, SDH succinate dehydrogenase