AUTHOR=Chen Yuhong , Chen Junyong , Long Liansheng , Han Leng , Mi Xiaohui , Song Yanfang , Cheng Huanqing , Zhang Yanrui , Cheng Liyang TITLE=Case Report: A novel TP53 mutation in a patient with quadruple wild-type gastrointestinal stromal tumor JOURNAL=Frontiers in Oncology VOLUME=13 YEAR=2023 URL=https://www.frontiersin.org/journals/oncology/articles/10.3389/fonc.2023.1260706 DOI=10.3389/fonc.2023.1260706 ISSN=2234-943X ABSTRACT=

In this report, we present a case study of a 64-year-old female who was diagnosed with gastrointestinal stromal tumors (GISTs) and subsequently developed liver metastases despite undergoing radical resection. Next-generation sequencing (NGS) assays indicated that the tumor lacked KIT/PDGFRA/SDH/RAS-P (RAS pathways, RAS-P) mutations, thereby classifying this patient as quadruple WT GIST (qGIST). Treatment with imatinib was initiated, and after 2.5 months, recurrence of the tumor and multiple metastases around the surgical site were observed. Consequently, the patient was switched to sunitinib treatment and responded well. Although she responded well to sunitinib, the patient died of tumor dissemination within 4 months. This case study highlights the potential efficacy of imatinib and the VEGFR-TKI sunitinib in treating qGIST patients harboring a TP53 missense mutation.