Gastrointestinal stromal tumors(GISTs)are the most common mesenchymal tumors of the gastrointestinal tract,driven by mutations in the proto-oncogene c-KIT or platelet-derived growth factor alpha(PDGFRA)gene in 85%-90%...Gastrointestinal stromal tumors(GISTs)are the most common mesenchymal tumors of the gastrointestinal tract,driven by mutations in the proto-oncogene c-KIT or platelet-derived growth factor alpha(PDGFRA)gene in 85%-90%of cases.3 Other mutations are rare and have unknown clinical effects.Imatinib,a tyrosine kinase inhibitor(TKI),is used as a first-line treatment and confers a median survival of up to 5 years in 70%-85%of patients with advanced GISTs.3 This response correlates with the tumor's mutational status.Exon 11 mutations are correlated with a good response,whereas mutations in exons 9,13,and 17 may result in variable responses to imatinib.Insufficient data regarding the response to imatinib in patients with mutations in the activation-loop domain encoded by exon 17 is available.This mutation is observed in 0.5%of all GISTs.11 Herein,we discuss the case of a patient with a GIST with a rare proto-oncogene c-KIT missense mutation in exon 17(c.2466T>A;Asn822Lys).The patient was treated for 3 months with imatinib,which yielded a partial response(PR).展开更多
文摘Gastrointestinal stromal tumors(GISTs)are the most common mesenchymal tumors of the gastrointestinal tract,driven by mutations in the proto-oncogene c-KIT or platelet-derived growth factor alpha(PDGFRA)gene in 85%-90%of cases.3 Other mutations are rare and have unknown clinical effects.Imatinib,a tyrosine kinase inhibitor(TKI),is used as a first-line treatment and confers a median survival of up to 5 years in 70%-85%of patients with advanced GISTs.3 This response correlates with the tumor's mutational status.Exon 11 mutations are correlated with a good response,whereas mutations in exons 9,13,and 17 may result in variable responses to imatinib.Insufficient data regarding the response to imatinib in patients with mutations in the activation-loop domain encoded by exon 17 is available.This mutation is observed in 0.5%of all GISTs.11 Herein,we discuss the case of a patient with a GIST with a rare proto-oncogene c-KIT missense mutation in exon 17(c.2466T>A;Asn822Lys).The patient was treated for 3 months with imatinib,which yielded a partial response(PR).
