相关实验视频
Updated: Jul 20, 2026

11:42
Induction of Mesenchymal-Epithelial Transitions in Sarcoma Cells
Published on: April 7, 2017
9.9K
双类型鼻肉瘤在融合变体和高度转化中表观遗传分析
Yuri Merlotti Gomes1, João Víctor Alves de Castro1, Nicolai Merlotti Gomes2
1Department of Pathology, A.C. Camargo Cancer Center, Sao Paulo, Brazil.
Human pathology
|February 20, 2026
概括
双类型鼻肉瘤 (BSS) 具有独特的DNA甲基化特征. 这种分子形状有助于分类具有挑战性的鼻瘤,无论融合类型或等级如何.
科学领域:
- 在瘤学瘤学.
- 遗传学 是一个遗传学.
- 病理学 病理学 病理学
背景情况:
- 双类型鼻肉瘤 (Biphenotypic sinonasal sarcoma,BSS) 是一种具有神经和肌原分化的罕见瘤.
- 诊断方面的挑战来自于高度的转变,并与其他鼻瘤重叠.
- 基因组甲基化分析是对鼻腔瘤分类的关键工具.
研究的目的:
- 为了研究BSS.的DNA甲基化概况.
- 探索BSS甲基化,聚变类型和高等级转化之间的关系.
- 为了建立BSS作为一个独特的分子实体在鼻腔瘤.
主要方法:
- 在14个BSS样本上使用Illumina MethylationEPIC阵列进行全基因组DNA甲基化概况.
- 临床,放射学,组织病理学和免疫组织化学数据的回顾性审查.
- 使用t分布式随机邻居嵌入 (t-SNE) 分析甲基化资料,并与参考队列进行比较.
主要成果:
- 所有BSS样品形成了一个独特的,凝聚力的表观遗传组,与其他鼻瘤分开.
- 常见的融合是PAX3::MAML3 (50%),其次是PAX3::FOXO1和罕见的重排.
- 没有观察到基于融合类型或瘤等级的特定聚类.
结论:
- BSS是一种独特的鼻肉瘤,具有特有的DNA甲基化特征.
- 这种签名独立于基因融合伙伴或组织学进展.
- DNA甲基化分析为分类具有挑战性的BSS病例提供了有价值的工具.
相关概念视频
Epigenetic Regulation
Epigenetic mechanisms play an essential role in healthy development. Conversely, precisely regulated epigenetic mechanisms are disrupted in diseases like cancer.
Histone Variants at the Centromere
Histone variants are the histone proteins with structural and sequence variations. These variants may be regarded as “mutant” forms that replace their canonical histone counterparts in the nucleosomes. Specific post-translational modifications on the histone variants enable further chromatin complexity and regulate tissue-specific gene expression. The most common histone variants are from histone H2A, H2B, and linker histone H1 families. However, several variants of histone H3 variants are also...
Cancers Originate from Somatic Mutations in a Single Cell
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...
The Ras Gene
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 superfamily...
Ras is a superfamily...
Epigenetic Regulation
Epigenetic changes alter the physical structure of the DNA without changing the genetic sequence and often regulate whether genes are turned on or off. This regulation ensures that each cell produces only proteins necessary for its function. For example, proteins that promote bone growth are not produced in muscle cells. Epigenetic mechanisms play an essential role in healthy development. Conversely, precisely regulated epigenetic mechanisms are disrupted in diseases like cancer.
X-chromosome...
X-chromosome...
Cancers Originate from Somatic Mutations in a Single Cell
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...

