相关实验视频

Updated: May 13, 2025

Molecular and Immunologic Techniques in a Genetically Engineered Mouse Model of Gastrointestinal Stromal Tumor

Molecular and Immunologic Techniques in a Genetically Engineered Mouse Model of Gastrointestinal Stromal Tumor

Published on: May 2, 2022

在小肠胃肠道侧面瘤-A病例报告中同时发生的KIT Exon 17和BRAF突变

Hashim Ishfaq¹, Misbah Younus Soomro², Bakhtawar Masood³

¹Medical College, Aga Khan University, Karachi, 74800, Pakistan.

Journal of gastrointestinal cancer

|May 12, 2025

概括

这项研究详细介绍了一种罕见的胃肠道 stromal 瘤 (GIST) 病例,同时具有 KIT 和 BRAF 突变. 该患者通过手术切除和伊马替尼治疗获得了良好的结果,这突显了基因分析的重要性.

科学领域:

在瘤学瘤学.
胃肠病学胃肠病学
遗传学是一个遗传学.

背景情况:

胃肠道 stromal 瘤 (GIST) 是罕见的,通常是由KIT,PDGFRA或BRAF突变驱动的.
在GIST中同时发生的KIT/BRAF突变非常罕见,历来被认为是相互排斥的.

研究的目的:

报告第一个记录下来的GIST病例,同时发生KIT外体17 (D816H) 和BRAF外体15 (V600E) 突变.
探索这种罕见突变特征的治疗影响和预后.

主要方法:

一名70岁的女性患有十二指肠GIST,经历了手术切除.
下一代测序 (NGS) 确定了同时发生的KIT外形17 (D816H) 和BRAF外形15 (V600E) 突变.
辅助性意马提尼布治疗是在术后进行的.

主要成果:

患者能很好地忍受伊马替尼治疗,但副作用轻微.
经过2年的随访,没有发现瘤复发或转移.
患者仍然处于放射性缓解状态.

结论:

这一案例表明,在切除和辅助治疗后,局部GIST与并发的KIT和BRAF突变具有有利的结果.
早期的综合基因型定型对于指导GIST治疗和预测意马替尼抗性至关重要.

关键词:

这是一个BRAFBRAF.同时发生的突变.这就是GIST GIST.这是一款KIT KIT.这是PDGFRA.铁氨酸激酶抑制剂铁氨酸激酶抑制剂

更多相关视频

Development and Maintenance of a Preclinical Patient Derived Tumor Xenograft Model for the Investigation of Novel Anti-Cancer Therapies

Development and Maintenance of a Preclinical Patient Derived Tumor Xenograft Model for the Investigation of Novel Anti-Cancer Therapies

Published on: September 30, 2016

Laparoscopy-endoscopy Cooperative Surgery for the Treatment of Gastric Gastrointestinal Stromal Tumors

Laparoscopy-endoscopy Cooperative Surgery for the Treatment of Gastric Gastrointestinal Stromal Tumors

Published on: February 19, 2022

相关概念视频

The Retinoblastoma Gene

The Retinoblastoma Gene

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...