ArticleGastric cancer : official journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association2026
Clinical outcomes and germline implications of primary KIT exon 13 and 17 mutations in gastrointestinal stromal tumors.
Article in Gastric cancer : official journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
backgroundPrimary KIT exon 13 and 17 mutations are rare in gastrointestinal stromal tumors (GISTs), and data on their response to imatinib are limited. We evaluated the clinical characteristics and outcomes.
methodsWe analyzed 1524 patients with metastatic or recurrent GIST treated with first-line imatinib between 2005 and 2024 at Asan Medical Center, Seoul, Korea. Objective response rate (ORR), progression-free survival (PFS), and overall survival (OS) were compared between the primary KIT exon 13 or 17 and exon 11 group. ORR was assessed only in patients with measurable lesions, whereas PFS and OS were analyzed in all patients. Germline sequencing was performed when available.
resultsTwenty-seven patients (1.8%) harbored primary KIT exon 13 (n = 20) or 17 (n = 7) mutations. ORR to imatinib tended to be lower for exon 13 (6/13, 46.2%) and exon 17 (1/3, 33.3%) than exon 11 (558/799, 69.8%; p = 0.144). Median PFS was 17.8, 18.6, and 57.1 months for exon 13, 17, and 11, respectively (p < 0.001); 24-month PFS rates were 37.9%, 33.3%, and 74.2%, respectively. The 24-month OS rates were 92.3%, 71.4%, and 94.8%. Of 19 patients tested, two harbored germline exon 13 mutations, including one with a family history.
conclusionsImatinib showed modest clinical activity in GISTs harboring primary KIT exon 13 or 17 mutations and remains a reasonable first-line option in the absence of established alternatives, although outcomes were less favorable than in exon 11. Family history and germline sequencing should be considered in young patients with exon 13 mutations.
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