作者： 颜淼1，夏延哲2，张信华1

单位：1.中山大学附属第一医院 胃肠外科，广东 广州 510080；2.中山大学附属第一医院 药学部，广东 广州 510080

Authors:  Yan Miao1, Xia Yanzhe2, Zhang Xinhua1

Unit:  1.Department of Gastrointestinal Surgery, the First Affiliated Hospital of Sun Yat-sen University, Guangzhou 510080, Guangdong, China；2.Department of Pharmacy, the First Affiliated Hospital of Sun Yat-sen University, Guangzhou 510080, Guangdong, China

摘要：

KIT 外显子9突变是胃肠间质瘤第二常见的基因突变类型，较其他类型呈现恶性度更高的生物学行为。大多数KIT 外显子9突变胃肠间质瘤经标准序贯治疗后并不能获得满意的无进展生存期。本文报道了1例44岁晚期KIT 外显子9突变女性患者，在标准二线治疗进展后予阿伐替尼联合舒尼替尼治疗，1个月后肿瘤退缩达15.7%，获得手术机会。患者术后继续靶向联合治疗，截至2023 年7月，共有6个月未见肿瘤复发。

关键词： 胃肠间质瘤；KIT外显子9；阿伐替尼；舒尼替尼；靶向联合治疗

Abstract：

KIT exon 9 mutation is the second most common genotype of gastrointestinal stromal tumors. It exhibits a more malignant biological behavior than other mutation types. Most KIT exon 9 mutant gastrointestinal stromal tumors cannot obtain satisfactory progression free survival after standard sequential therapy. This article reports a 44-year-old female patient with advanced KIT exon 9 mutation gastrointestinal stromal tumor who was treated with avapritinib combined with sunitinib after progression on standard secondline therapy. The tumor shrunk by 15.7% after one month, following with surgery. The patient continued combination targeted therapy after surgery, and no tumor recurrence has been seen for 6 months until July 2023.

Key Words:  Gastrointestinal stromal tumors; KIT exon 9; Avapritinib; Sunitinib; Combination targeted therapy

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