Imatinib response of gastrointestinal stromal tumor patients with germline mutation on KIT exon 13:A family report

• 作者: Ali Akyuz Gulgun Engin Haluk Akman Hülya Kayserili Nuri Faruk Aykan Serpil Eraslan Yersu Kapran
• 来源期刊: 世界放射学杂志：英文版（电子版）
• 学科: 医学
• 关键词: 胃肠的 stromal 肿瘤 家庭 Germline 变化 IMATINIB 反应
• 年，卷（期）: 2017,（9）
• 页码范围: 365-370
• 页数: 6页
• 分类号: R735

摘要

Familial gastrointestinal stromal tumor(GIST) is a rare autosomal dominant disorder associated with mutations in the KIT gene in the majority of cases. Although, exon 11 appears to be the hot spot region for approximately 95% of germline mutations, pathogenic variations have also been identified in exon 8, 13 and 17. Exon 13 germline mutations are extremely rare amongst familial GISTs and seven families with a germline mutation have been reported to date. Moreover, the role of imatinib mesylate in this rare familiar settings is not completely known so far. We describe here clinical, imaging, pathological and genetic findings of a family with four affected members; grandmother, his son and two grand-sons having a germline gain-of-function mutation of KIT in exon 13 and discuss the imatinib mesylate treatment surveillance outcomes towards disease management.