CASE REPORT article
Front. Oncol.
Sec. Cancer Molecular Targets and Therapeutics
Volume 15 - 2025 | doi: 10.3389/fonc.2025.1630699
This article is part of the Research TopicPrecision Medicine and Targeted Therapies in Gastrointestinal and Genitourinary Solid TumorsView all 11 articles
A Case Report of advanced small intestinal stromal tumor with KIT gene mutation and BRCA2 deletion after multi-line treatments
Provisionally accepted
Shiyun Cui1,2
Lei Fan3,4
Yu Bai5Xinnan Sun5
Cai Yucheng5Jingqi Dai5
Ting Wang1Chongqi Sun1Rong Wang1
Lianke Liu1*- 1Department of Oncology, First Affiliated Hospital, Nanjing Medical University, Nanjing, China
- 2Chongqing Hospital of Jiangsu Province Hospital, Chongqing, China
- 3Affiliated Hospital of Integrated Traditional Chinese and WesternMedicine, Nanjing, Jiangsu, China
- 4Jiangsu Province Academy of Traditional Chinese Medicine, Nanjing, Jiangsu, China
- 5Nanjing Medical University, Nanjing, Jiangsu, China
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This study reports a 40-year-old male with small intestinal stromal tumor (SIST).After initial surgery and adjuvant imatinib, the tumor recurred. The patient then received multiple rounds of treatment with targeted drugs and surgical interventions.Through comprehensive analysis of gene mutation profiles (KIT and HRR gene mutations, including BRCA2), a combination therapy of fluzoparib, pamiparib, and ripretinib was administered, stabilizing the patient's condition with significant efficacy. This case highlights the importance of genetic testing and personalized targeted treatment strategies for gastrointestinal stromal tumor (GIST) patients.The present study describes the case of a 40-year-old male patient with small intestinal stromal tumor (SIST). After undergoing initial surgery and adjuvant imatinib treatment, the patient's tumor recurred. Subsequently, the patient received multiple rounds of treatment, including the application of various targeted drugs and multiple surgical interventions. By comprehensively analyzing the patient's gene mutation characteristics (KIT gene mutation and HRR gene mutations including BRCA2), a combined treatment of fluzoparib, pamiparib, and ripretinib was administered, and the patient's condition was stable thereafter, indicating obvious efficacy. This case fully demonstrates the significance of genetic testing and individualized targeted treatment strategies for patients with gastrointestinal stromal tumors (GIST).
Keywords: Gastrointestinal Stromal Tumor, gene mutation, targeted therapy, Multidisciplinary treatment, Intestinal stromal tumor
Received: 20 May 2025; Accepted: 11 Jul 2025.
Copyright: © 2025 Cui, Fan, Bai, Sun, Yucheng, Dai, Wang, Sun, Wang and Liu. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Lianke Liu, Department of Oncology, First Affiliated Hospital, Nanjing Medical University, Nanjing, China
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