小说 MAML2 融合在人类恶性瘤中
Takefumi Komiya1, Kieran Sweeney2, Chao H Huang3
1Division of Hematology and Oncology, Penn State College of Medicine, Hershey, PA 17033, USA.
Cancers
|October 16, 2025
概括
研究人员在人类癌症中发现了新的MAML2融合,其中大多数出现在乘客变异中. 然而,ATXN3::MAML2融合可能是一个需要进一步研究的病原性变化.
科学领域:
- 在瘤学瘤学.
- 基因组学就是基因组学.
- 分子生物学分子生物学
背景情况:
- 瘤性MAML2融合,保留MAML2交换激活域 (TAD),是已知的异常基因转录的驱动因素.
- 对于MAML2与CRTC1,CRTC3,YAP1和NR1D1.1的融合,已有确定的致癌作用.
- 这项研究旨在在各种人类恶性瘤中发现新的MAML2融合.
研究的目的:
- 为了识别和描述人类癌症的广泛范围内的新型MAML2融合合作伙伴.
- 将新型MAML2融合的特征与以前识别的特征进行比较.
主要方法:
- 在180,124个瘤样本中进行DNA和RNA测序.
- 识别和选MAML2融合,重点关注具有C端MAML2TAD的致病性或复发性框架内融合.
- 融合负荷的定义是每个样本的独特融合异型的数量.
主要成果:
- 143个标本存在MAML2与MAML2TAD的融合.
- 发现了与MTMR2,SESN3,CCDC82,FAM76B和ATXN3.3相关的新型融合.
- 与已知的融合相比,新型融合表现出较低的表达,更高的融合负担和更频繁的TP53共同突变,除了ATXN3::MAML2.2.
- ATXN3::MAML2是通过染色体间转位产生的,缺乏TP53突变关联.
结论:
- 确定了新的MAML2融合伙伴,其中最有可能是与基因组不稳定性或p53功能障碍相关的乘客变化.
- 之前在癌前的胰腺状况中发现的ATXN3::MAML2融合,需要进一步调查作为潜在的致病性改变.
更多相关视频
09:45Mosaic Zebrafish Transgenesis for Functional Genomic Analysis of Candidate Cooperative Genes in Tumor Pathogenesis
Published on: March 31, 2015
11.7K
09:58Mapping the Structure-Function Relationships of Disordered Oncogenic Transcription Factors Using Transcriptomic Analysis
Published on: June 27, 2020
3.1K
相关概念视频
Abnormal Proliferation
5.1K
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...
5.1K
mTOR Signaling and Cancer Progression
4.6K
The mammalian target of rapamycin or mTOR protein was discovered in 1994 due to its direct interaction with rapamycin. The protein gets its name from a yeast homolog called TOR. The mTOR protein complex in mammalian cells plays a major role in balancing anabolic processes such as the synthesis of proteins, lipids, and nucleotides and catabolic processes, such as autophagy in response to environmental cues, such as availability of nutrients and growth factors.
The mTOR pathway or the...
The mTOR pathway or the...
4.6K
Induced Pluripotent Stem Cells
5.4K
Stem cells are undifferentiated cells that divide and produce different cell types. Ordinarily, cells that have differentiated into a specific cell type are terminally differentiated; however, scientists have found a way to reprogram these mature cells so that they dedifferentiate and return to an unspecialized, proliferative state. These cells are pluripotent like embryonic stem cells—able to produce all cell types—and are called induced pluripotent stem cells (iPSCs).
Somatic...
Somatic...
5.4K
lncRNA - Long Non-coding RNAs
9.8K
In humans, more than 80% of the genome gets transcribed. However, only around 2% of the genome codes for proteins. The remaining part produces non-coding RNAs which includes ribosomal RNAs, transfer RNAs, telomerase RNAs, and regulatory RNAs, among other types. A large number of regulatory non-coding RNAs have been classified into two groups depending upon their length – small non-coding RNAs, such as microRNA, which are less than 200 nucleotides in length, and long non-coding RNA...
9.8K
Cancers Originate from Somatic Mutations in a Single Cell
14.5K
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...
14.5K
Metastasis
6.4K
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...
6.4K
