经常出现的 TRAK1::RAF1 儿科低度质瘤中的融合
Jamal K Benhamida1, Hannah J Harmsen2, Deqin Ma3
1Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, New York, USA.
Brain pathology (Zurich, Switzerland)
|July 3, 2023
概括
在儿科低度质瘤中发现了复发的TRAK1::RAF1融合. 这些发现扩大了对儿科大脑瘤中瘤性RAF1融合的理解,有助于分类和管理.
科学领域:
- 在瘤学瘤学.
- 遗传学 是一个遗传学.
- 儿科神经外科 儿科神经外科
背景情况:
- RAF1 (CRAF) 融合是儿科低度质瘤罕见的致癌驱动因素.
- 已知的RAF1融合伙伴是有限的,并且它们很少在飞细胞天体细胞瘤特征中发现.
研究的目的:
- 描述小儿低度质-质神经元瘤中的新型TRAK1::RAF1融合.
- 介绍这些瘤的临床,组织病理和分子特征.
- 扩大在儿科质瘤中致癌RAF1融合的景观.
主要方法:
- 对三名儿科患者的病例系列分析.
- 临床数据的审查.
- 组织病理学检查.
- 分子分析包括基因融合识别和DNA甲基化概况.
主要成果:
- 三名儿科患者 (全部为女性,年龄为8岁,15个月和10个月) 呈现了含有TRAK1::RAF1融合的低度质-质神经元瘤.
- 瘤主要发生在大脑半球的皮质上,两例瘤涉及脑膜.
- 两种瘤的甲基化概况与婴儿脱质性瘤/细胞瘤一致,并在切除后保持稳定.
- 一个瘤在14个月后集中复发,但在重新切除后仍然无症状.
结论:
- TRAK1::RAF1融合代表了儿科低度质瘤中新型的致癌驱动因素.
- 这些发现有助于完善瘤分类,并指导受影响儿童的临床管理策略.
- 这项研究强调了分子分析在识别儿科脑瘤中罕见的遗传变化的重要性.
相关概念视频
The Retinoblastoma Gene
4.1K
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,...
4.1K
Enzyme-linked Receptors
78.8K
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...
78.8K
The Ras Gene
6.3K
The Ras-gene-encoded proteins are regulators of signaling pathways controlling cell proliferation, differentiation, or cell survival. The Ras-gene family in humans constitutes three primary members—the HRas, NRas, and KRas. These genes code for four functionally distinct yet closely related proteins—the HRas, NRas, KRas4A, and KRas4B. The involvement of mutant Ras genes in human cancer was first discovered in 1982 and is among the most common causes of human tumorigenesis.
Ras is a...
Ras is a...
6.3K
Rous Sarcoma Virus (RSV) and Cancer
5.1K
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...
5.1K


