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病例报告:一名起源不明的外显子11突变型胃肠道间质瘤患者出现男性生殖系统、软组织和心肌转移。

Case report: Male genital system, soft tissue and myocardial metastases in a patient with exon 11-mutated GIST of unknown origin.

作者信息

Rota Michele, Sganzerla Federico, Zuffante Michele, Mafficini Andrea, Pavarana Michele, Milella Michele

机构信息

Section of Innovation Biomedicine - Oncology Area, Department of Engineering for Innovation Medicine, University of Verona and Verona University and Hospital Trust, Verona, Italy.

Nuclear Medicine Unit, Integrated University Hospital of Verona, Verona, Italy.

出版信息

Front Oncol. 2024 Sep 3;14:1450889. doi: 10.3389/fonc.2024.1450889. eCollection 2024.

DOI:10.3389/fonc.2024.1450889
PMID:39290240
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11405151/
Abstract

Gastrointestinal stromal tumors (GISTs) are the most frequent mesenchymal tumors of the gastrointestinal tract, usually arising in the stomach or in the small bowel. Most GISTs are diagnosed early due to the presence of symptoms (e.g., abdominal discomfort/pain, anemia, etc.); at times, diagnosis could be incidental (e.g., ultrasound or endoscopic examinations performed for other reasons, surgical intervention for a different disease, etc.). Diagnosis occurs when the tumor is already metastatic in 10-20% of cases. The most common metastatic sites are liver, peritoneum, and loco-regional lymph nodes. Here, we present the case of a male patient with an atypical presentation of disease: as a matter of fact, during his oncological history, he developed metastases in unlikely sites, such as penis, scrotum, myocardium, and soft tissues.

摘要

胃肠道间质瘤(GISTs)是胃肠道最常见的间叶组织肿瘤,通常发生于胃或小肠。多数GISTs因出现症状(如腹部不适/疼痛、贫血等)而早期确诊;有时,诊断可能是偶然发现的(如因其他原因进行的超声或内镜检查、针对其他疾病的手术干预等)。在10%-20%的病例中,肿瘤在确诊时已发生转移。最常见的转移部位是肝脏、腹膜和局部区域淋巴结。在此,我们报告一例疾病表现不典型的男性患者:事实上,在其肿瘤病史中,他在一些不太可能的部位发生了转移,如阴茎、阴囊、心肌和软组织。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5424/11405151/be1b7c9433ae/fonc-14-1450889-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5424/11405151/f1809aa51294/fonc-14-1450889-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5424/11405151/315f527e0e36/fonc-14-1450889-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5424/11405151/621d5d97c020/fonc-14-1450889-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5424/11405151/be1b7c9433ae/fonc-14-1450889-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5424/11405151/f1809aa51294/fonc-14-1450889-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5424/11405151/315f527e0e36/fonc-14-1450889-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5424/11405151/621d5d97c020/fonc-14-1450889-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5424/11405151/be1b7c9433ae/fonc-14-1450889-g004.jpg

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本文引用的文献

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Oncol Lett. 2022 Nov 1;24(6):453. doi: 10.3892/ol.2022.13573. eCollection 2022 Dec.
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Early Prediction and Monitoring of Treatment Response in Gastrointestinal Stromal Tumors by Means of Imaging: A Systematic Review.通过影像学手段对胃肠道间质瘤治疗反应的早期预测与监测:一项系统评价
Diagnostics (Basel). 2022 Nov 7;12(11):2722. doi: 10.3390/diagnostics12112722.
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Gastrointestinal Stromal Tumors-A Mini Review.胃肠道间质瘤——一篇综述短文
J Pers Med. 2021 Jul 22;11(8):694. doi: 10.3390/jpm11080694.
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The management of metastatic GIST: current standard and investigational therapeutics.转移性 GIST 的治疗管理:当前标准和研究治疗方法。
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Clinical Presentation of Gastrointestinal Stromal Tumors.胃肠道间质瘤的临床表现
Visc Med. 2018 Oct;34(5):335-340. doi: 10.1159/000494303. Epub 2018 Oct 13.
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Gastrointestinal stromal tumours: ESMO-EURACAN Clinical Practice Guidelines for diagnosis, treatment and follow-up.胃肠道间质瘤:ESMO-EURACAN诊断、治疗及随访临床实践指南
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