带有ETV6:NTRK3融合的骨外骨肉瘤成功用larotrectinib治疗:一个案例研究
Kristijan Skok1, Florian Ochsenhofer1, Raphael Gassner1
1Diagnostic and Research Institute of Pathology, Medical University of Graz, Graz, Austria.
Communications medicine
|November 20, 2025
概括
带有ETV6::NTRK3融合的骨外骨肉瘤 (ESOS) 迅速对larotrectinib作出反应. 这一案例突出了针对罕见瘤的精准医学,强调了针对可操作目标的分子分析.
科学领域:
- 在瘤学瘤学.
- 遗传学 遗传学 是一个
- 精准医学是一门精准的医学.
背景情况:
- 骨外骨肉瘤 (ESOS) 是一种罕见的,具有侵略性的瘤,治疗选择有限,预后不佳.
- 识别可向的基因变异对于改善ESOS治疗结果至关重要.
- 这项研究报告了第一个全球ESOS病例与ETV6::NTRK3融合.
研究的目的:
- 报告全球首例带有ETV6::NTRK3融合的骨外骨肉瘤 (ESOS) 的病例.
- 描述该患者对选择性胺素受体激酶 (TRK) 抑制剂larotrectinib的临床反应.
主要方法:
- 一份病例报告详细介绍了一名74岁的男性,他的部瘤很大,无法手术.
- 组织病理学,免疫组织化学和分子分析,包括向RNA测序和基于DNA的向分析.
- 在8个月的larotrectinib治疗期间对临床过程的监测.
主要成果:
- 确定了一种可操作的ETV6::NTRK3融合,此前在ESOS中未被描述.
- 拉罗特雷克提尼布治疗在3周内产生了快速的临床反应,并观察到部分缓解.
- 瘤缩小持续了8个月,尽管有其他医学并发症,但没有与TRK抑制相关的显著不良影响.
结论:
- 该病例是首次报告的与NTRK融合的骨外骨肉瘤 (ESOS) 病例.
- 该患者对larotrectinib表现出快速和持续的反应,展示了其有效性.
- 分子分析对于在像ESOS这样的罕见和侵袭性瘤中识别可操作的目标至关重要.
更多相关视频
10:27Testing Targeted Therapies in Cancer using Structural DNA Alteration Analysis and Patient-Derived Xenografts
Published on: July 25, 2020
7.8K
09:49Oncogenic Gene Fusion Detection Using Anchored Multiplex Polymerase Chain Reaction Followed by Next Generation Sequencing
Published on: July 5, 2019
9.9K
相关概念视频
01:03Rous Sarcoma Virus (RSV) and Cancer
6.1K
Rous Sarcoma virus or RSV was discovered by F. Peyton Rous in the year 1911 as a filterable transmissible agent that could cause tumors in chickens. He won a Nobel Prize for this discovery in 1966. His experiments clearly demonstrated that some cancers could be caused by infectious agents and led to the discovery of many more cancer-causing viruses in animals as well as humans.
RSV is a retrovirus that contains two copies of a plus-strand RNA genome. Its genome consists of four main open...
RSV is a retrovirus that contains two copies of a plus-strand RNA genome. Its genome consists of four main open...
6.1K
02:56Treatment Resistant Cancers
3.7K
Cancer is the second leading cause of death in the United States. A cancer cell is genetically unstable and hence can mutate faster. They can also modify their microenvironment and escape immune surveillance. The difficulties in treating cancer are further compounded by the emergence of rapid resistance to anticancer drugs. The most common ways to attain resistance in cancer cells include alteration in drug transport and metabolism, modification of drug target, elevated DNA damage response, or...
3.7K
01:20The Retinoblastoma Gene
4.6K
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,...
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,...
4.6K