Nie Yanli, Sun Wenjia, Xiao Zhihua, Ye Shengwei
Department of Gastrointestinal Medical Oncology, The Hubei Cancer Hospital, Huazhong University of Science and Technology.
Department of Pathology, The Hubei Cancer Hospital, Huazhong University of Science and Technology.
Medicine (Baltimore). 2019 Jan;98(3):e14060. doi: 10.1097/MD.0000000000014060.
Gastrointestinal stromal tumor (GIST) is the most common mesenchymal tumor of the gastrointestinal tract and is characterized by KIT mutations. Patientsresistant to 1st-line imatinib therapy are usually given sunitinib assecond-line treatment, which provides a median progression-free survival of 8 to 12 months. We report the 1st case of metastatic jejunum GIST with a KIT exon 11 deletion that showed complete response (CR) to sunitinib for more than 3 years.
A 34-year-old man with advanced jejunum GIST was surgically treated upon initial diagnosis, and was histologically found to carry a high recurrence risk. Genetic testing revealed a KIT exon 11 deletion, and adjuvant therapy with imatinib was administered. The imatinib dose was escalated following recurrence in the abdomen, but the mass continued to grow.
He was diagnosed with abdominal recurrence of GIST based on his medical history and histopathological results.
Second-line sunitinib therapy was given.
The mass disappeared, and CR was seen following 7 months of sunitinib therapy; this CR was sustained for more than 45 months.
In cases of metastatic jejunum GIST with a KIT exon 11 deletion, sunitinib as second-line therapy can be used to achieve CR for more than 3 years.
胃肠道间质瘤（GIST）是胃肠道最常见的间叶性肿瘤，其特征为KIT基因突变。对一线伊马替尼治疗耐药的患者通常接受舒尼替尼作为二线治疗，其无进展生存期的中位数为8至12个月。我们报告了首例转移性空肠GIST患者，其KIT外显子11缺失，对舒尼替尼显示完全缓解（CR）超过3年。
一名34岁晚期空肠GIST男性患者在初诊时接受了手术治疗，组织学检查发现其复发风险高。基因检测显示KIT外显子11缺失，遂给予伊马替尼辅助治疗。腹部复发后伊马替尼剂量增加，但肿块仍继续生长。
根据其病史和组织病理学结果，他被诊断为空肠GIST腹部复发。
给予二线舒尼替尼治疗。
肿块消失，舒尼替尼治疗7个月后出现完全缓解；这种完全缓解持续了超过45个月。
对于KIT外显子11缺失的转移性空肠GIST病例，舒尼替尼作为二线治疗可用于实现超过3年的完全缓解。
