乳头血瘤是体质GNA11和GNAQ突变的所在地
Catherine K Gestrich1, Mathew P Vivero2, Dennis J Konczyk2
1Departments of Pathology.
The American journal of surgical pathology
|September 26, 2023
概括
乳头血管瘤 (PH) 与其他血管病变共享遗传突变. 研究人员在PH中发现了GNA11和GNAQ突变,这表明这些条件的共同分子起源.
科学领域:
- 皮肤病学 皮肤病学
- 在瘤学瘤学.
- 遗传学 遗传学 是一个
背景情况:
- 乳头血管瘤 (PH) 是一种罕见的皮肤血管病变.
- PH呈现出特征性的组织病理特征,如血管扩张和内皮内含.
- 与先天性血管瘤的相似性表明存在潜在的遗传联系.
研究的目的:
- 为了调查GNAQ和GNA11突变在乳头血管瘤中的存在.
- 探索PH的分子基础及其与其他血管异常的关系.
主要方法:
- 分析了七个手术切除的PH标本.
- 进行了基因测序,以检测GNAQ和GNA11基因中的突变.
主要成果:
- 所有七例PH病例都发生在幼儿中,主要发生在头部和部.
- 四个样本中存在GNA11 p.Q209L突变.
- 三个样本显示了GNAQ p.Q209L误解突变.
结论:
- 乳头血管瘤携带GNA11和GNAQ突变,类似于其他体质血管病变.
- 这些共享突变可能解释重叠的临床和病理特征.
- 这些发现表明,各种血管异常的共同遗传途径.
更多相关视频
08:57Author Spotlight: Genetically Engineered Mouse Models and Pathological Characterization of Neurofibromatosis Type 1 Associated Tumors
Published on: May 17, 2024
2.0K
09:37Defining Gene Functions in Tumorigenesis by Ex vivo Ablation of Floxed Alleles in Malignant Peripheral Nerve Sheath Tumor Cells
Published on: August 25, 2021
1.8K
相关概念视频
Abnormal Proliferation
4.6K
Under normal conditions, most adult cells remain in a non-proliferative state unless stimulated by internal or external factors to replace lost cells. Abnormal cell proliferation is a condition in which the cell's growth exceeds and is uncoordinated with normal cells. In such situations, cell division persists in the same excessive manner even after cessation of the stimuli, leading to persistent tumors. The tumor arises from the damaged cells that replicate to pass the damage to the...
4.6K
Notch Signaling Pathway
4.3K
The Notch signaling pathway is a major intracellular signaling pathway that is highly conserved over a broad spectrum of metazoan species. It stands unique from other intracellular signaling mechanisms in animals because notch protein itself acts as the receptor as well as the primary signaling molecule.
The Notch gene came into the limelight in 1914 after the discovery that its mutation in Drosophila melanogaster leads to a serrated (or "notched") wing margin phenotype. It was not...
The Notch gene came into the limelight in 1914 after the discovery that its mutation in Drosophila melanogaster leads to a serrated (or "notched") wing margin phenotype. It was not...
4.3K
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
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
Cancers Originate from Somatic Mutations in a Single Cell
12.0K
Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...
12.0K
