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Case Report: A novel TP53 mutation in a patient with quadruple wild-type gastrointestinal stromal tumor

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-...

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Autores principales: Chen, Yuhong, Chen, Junyong, Long, Liansheng, Han, Leng, Mi, Xiaohui, Song, Yanfang, Cheng, Huanqing, Zhang, Yanrui, Cheng, Liyang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10666786/
https://www.ncbi.nlm.nih.gov/pubmed/38023229
http://dx.doi.org/10.3389/fonc.2023.1260706
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author Chen, Yuhong
Chen, Junyong
Long, Liansheng
Han, Leng
Mi, Xiaohui
Song, Yanfang
Cheng, Huanqing
Zhang, Yanrui
Cheng, Liyang
author_facet Chen, Yuhong
Chen, Junyong
Long, Liansheng
Han, Leng
Mi, Xiaohui
Song, Yanfang
Cheng, Huanqing
Zhang, Yanrui
Cheng, Liyang
author_sort Chen, Yuhong
collection PubMed
description 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.
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spelling pubmed-106667862023-01-01 Case Report: A novel TP53 mutation in a patient with quadruple wild-type gastrointestinal stromal tumor Chen, Yuhong Chen, Junyong Long, Liansheng Han, Leng Mi, Xiaohui Song, Yanfang Cheng, Huanqing Zhang, Yanrui Cheng, Liyang Front Oncol Oncology 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. Frontiers Media S.A. 2023-11-09 /pmc/articles/PMC10666786/ /pubmed/38023229 http://dx.doi.org/10.3389/fonc.2023.1260706 Text en Copyright © 2023 Chen, Chen, Long, Han, Mi, Song, Cheng, Zhang and Cheng https://creativecommons.org/licenses/by/4.0/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) and the copyright owner(s) 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.
spellingShingle Oncology
Chen, Yuhong
Chen, Junyong
Long, Liansheng
Han, Leng
Mi, Xiaohui
Song, Yanfang
Cheng, Huanqing
Zhang, Yanrui
Cheng, Liyang
Case Report: A novel TP53 mutation in a patient with quadruple wild-type gastrointestinal stromal tumor
title Case Report: A novel TP53 mutation in a patient with quadruple wild-type gastrointestinal stromal tumor
title_full Case Report: A novel TP53 mutation in a patient with quadruple wild-type gastrointestinal stromal tumor
title_fullStr Case Report: A novel TP53 mutation in a patient with quadruple wild-type gastrointestinal stromal tumor
title_full_unstemmed Case Report: A novel TP53 mutation in a patient with quadruple wild-type gastrointestinal stromal tumor
title_short Case Report: A novel TP53 mutation in a patient with quadruple wild-type gastrointestinal stromal tumor
title_sort case report: a novel tp53 mutation in a patient with quadruple wild-type gastrointestinal stromal tumor
topic Oncology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10666786/
https://www.ncbi.nlm.nih.gov/pubmed/38023229
http://dx.doi.org/10.3389/fonc.2023.1260706
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