在骨髓甲状腺癌中出现了三种新的同时发生的NTRK2融合,具有诊断意义
Junjie Chu1, Nan Zhao2, Qingxiang Yu2
1Department of Thyroid and Head & Neck Surgery, Institute of Micro-Invasive Surgery of Zhejiang University, Sir Run Run Shaw Hospital, Medical School, Zhejiang University, Hangzhou, People's Republic of China.
Discover oncology
|March 1, 2026
概括
在一个骨髓甲状腺癌患者中发现了三种新的NTRK2基因融合. 这一发现扩大了已知的NTRK2重组,并可能影响TRK向治疗的疗效.
科学领域:
- 在瘤学瘤学.
- 遗传学 是一个遗传学.
- 分子生物学分子生物学
背景情况:
- NTRK2融合是各种癌症罕见的致癌驱动因素,对TRK抑制剂反应良好.
- 在髓性甲状腺癌 (MTC) 中,NTRK2融合的特征不完全.
研究的目的:
- 报告三种新型NTRK2融合转录变异在单个MTC患者中异常同时出现的情况.
- 扩大对NTRK2重组及其转移合作伙伴的理解.
主要方法:
- 进行了向RNA测序,以确定融合转录.
- 综合基因组学查看器 (IGV) 用于可视化.
- 桑格测序用于验证.
主要成果:
- 发现了三种新的NTRK2框架内融合转录变异:GTF2I-NTRK2 (G9:N13),GTF2I-NTRK2 (G9:N14) 和NTRK2-GTF2I (N12:G11).
- 两个融合涉及GTF2I异构9与不同的NTRK2异构 (13-19或14-19) 融合.
- 第三次融合涉及NTRK2前列子1-12与GTF2I前列子11-35.5融合.
结论:
- 这是关于三种新型NTRK2融合转录变异在MTC患者中同时发生的第一份报告.
- 这些发现扩大了已知的NTRK2转位合作伙伴的范围.
- 需要进一步的研究来验证对TRK向治疗和预后的影响.
相关概念视频
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Enzyme-linked receptors are proteins that act as both receptor and enzyme, activating multiple intracellular signals. This is a large group of receptors that include the receptor tyrosine kinase (RTK) family. Many growth factors and hormones bind to and activate the RTKs.
Neurotrophin (NT) receptors are a family of RTKs, including trkA, trkB, and trkC (tropomyosin-related kinase) receptors. TrkA is specific for nerve growth factor (NGF), neurotrophin-6, and neurotrophin-7. TrkB binds...
Neurotrophin (NT) receptors are a family of RTKs, including trkA, trkB, and trkC (tropomyosin-related kinase) receptors. TrkA is specific for nerve growth factor (NGF), neurotrophin-6, and neurotrophin-7. TrkB binds...
02:07Tumor Progression
Tumor progression is a phenomenon where the pre-formed tumor acquires successive mutations to become clinically more aggressive and malignant. In the 1950s, Foulds first described the stepwise progression of cancer cells through successive stages.
Colon cancer is one of the best-documented examples of tumor progression. Early mutation in the APC gene in colon cells causes a small growth on the colon wall called a polyp. With time, this polyp grows into a benign, pre-cancerous tumor. Further...
Colon cancer is one of the best-documented examples of tumor progression. Early mutation in the APC gene in colon cells causes a small growth on the colon wall called a polyp. With time, this polyp grows into a benign, pre-cancerous tumor. Further...
02:30Metastasis
Metastasis is the spread of cancer cells from the original site to distant locations in the body. Cancer cells can spread via blood vessels (hematogenous) as well as lymph vessels in the body.
Epithelial-to-Mesenchymal Transition
The epithelial-to-mesenchymal transition or EMT is a developmental process commonly observed in wound healing, embryogenesis, and cancer metastasis. EMT is induced by transforming growth factor-beta (TGF-β) or receptor tyrosine kinase (RTK) ligands, which further...
Epithelial-to-Mesenchymal Transition
The epithelial-to-mesenchymal transition or EMT is a developmental process commonly observed in wound healing, embryogenesis, and cancer metastasis. EMT is induced by transforming growth factor-beta (TGF-β) or receptor tyrosine kinase (RTK) ligands, which further...
02:07Tumor Progression
Tumor progression is a phenomenon where the pre-formed tumor acquires successive mutations to become clinically more aggressive and malignant. In the 1950s, Foulds first described the stepwise progression of cancer cells through successive stages.
Colon cancer is one of the best-documented examples of tumor progression. Early mutation in the APC gene in colon cells causes a small growth on the colon wall called a polyp. With time, this polyp grows into a benign, pre-cancerous tumor. Further...
Colon cancer is one of the best-documented examples of tumor progression. Early mutation in the APC gene in colon cells causes a small growth on the colon wall called a polyp. With time, this polyp grows into a benign, pre-cancerous tumor. Further...