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一例多线治疗后发生KIT基因突变和BRCA2缺失的晚期小肠间质瘤病例报告

A case report of advanced small intestinal stromal tumor with KIT gene mutation and BRCA2 deletion after multi-line treatments.

作者信息

Cui Shiyun, Fan Lei, Bai Yu, Sun Xinnan, Cai Yucheng, Dai Jingqi, Wang Ting, Sun Chongqi, Wang Rong, Liu Lianke

机构信息

Department of Oncology, The First Affiliated Hospital of Nanjing Medical University, Jiangsu, Nanjing, China.

Department of Oncology, Chongqing Hospital of Jiangsu Province Hospital, The People's Hospital of Qijiang District, Chongqing, China.

出版信息

Front Oncol. 2025 Aug 1;15:1630699. doi: 10.3389/fonc.2025.1630699. eCollection 2025.

DOI:10.3389/fonc.2025.1630699
PMID:40823097
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12353739/
Abstract

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.

摘要

本研究报告了一名40岁患有小肠间质瘤（SIST）的男性。在初次手术及辅助使用伊马替尼后，肿瘤复发。该患者随后接受了多轮靶向药物治疗及手术干预。通过对基因突变谱（KIT和HRR基因突变，包括BRCA2）的综合分析，给予氟唑帕利、帕米帕利和瑞派替尼联合治疗，显著稳定了患者病情，疗效显著。该病例突出了基因检测及针对胃肠间质瘤（GIST）患者的个性化靶向治疗策略的重要性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/840b/12353739/2af569e6c094/fonc-15-1630699-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/840b/12353739/10df9b796312/fonc-15-1630699-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/840b/12353739/3a638b4c6fa3/fonc-15-1630699-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/840b/12353739/2af569e6c094/fonc-15-1630699-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/840b/12353739/10df9b796312/fonc-15-1630699-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/840b/12353739/3a638b4c6fa3/fonc-15-1630699-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/840b/12353739/2af569e6c094/fonc-15-1630699-g003.jpg

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Durable response to first-line PARP inhibition in -mutated metastatic cholangiocarcinoma: case report.BRCA1/2 突变的转移性胆管癌对一线 PARP 抑制的持久反应：病例报告
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