恶性植物瘤的基因组景观揭示了多个可针对的机会
Laura H Rosenberger1,2, Richard F Riedel2,3, Emilia J Diego4
1Department of Surgery, Duke University Medical Center, Durham, NC 27710, United States.
The oncologist
|August 27, 2024
概括
恶性植物瘤 (MPT) 具有可操作的基因组变异,包括TERT促进体和CDKN2A突变. 转移性MPT的常规基因组分析可以指导个性化治疗策略和临床试验选择.
科学领域:
- 在瘤学瘤学.
- 基因组学就是基因组学.
- 癌症研究 癌症研究
背景情况:
- 恶性乳腺瘤 (MPT) 是一种罕见的纤维皮质乳腺癌.
- 对MPT缺乏有效的全身疗法,转移性进展的预后不佳.
研究的目的:
- 描述MPT的基因组景观.
- 在MPT中识别潜在的免疫治疗生物标志物.
主要方法:
- 用324个基因的下一代测序对135个MPT病例进行基因组分析.
- 评估瘤突变负担 (TMB),微卫星不稳定性和编程死亡连接体1 (PD-L1) 表达.
- 统计分析包括费舍尔的精确测试和ANOVA.
主要成果:
- 常见的基因变异包括TERT促进子 (69.7%),CDKN2A (45.9%) 和TP53 (37.8%).
- 确定了临床可操作的突变,如NF1,PIK3CA和BRAF V600E.
- 21.4%的MPT是PD-L1阳性,3个病例是高TMB.
结论:
- 这项研究是迄今为止对MPT最大的基因组评估.
- 在MPT中发现了多个临床可操作的突变.
- 转移性MPT的基因组测序可以为治疗决策和临床试验招生提供信息.
更多相关视频
10:27Testing Targeted Therapies in Cancer using Structural DNA Alteration Analysis and Patient-Derived Xenografts
Published on: July 25, 2020
7.2K
07:48Utilizing Functional Genomics Screening to Identify Potentially Novel Drug Targets in Cancer Cell Spheroid Cultures
Published on: December 26, 2016
11.3K
相关概念视频
Targeted Cancer Therapies
7.5K
The targeted cancer therapies, also known as “molecular targeted therapies,” take advantage of the molecular and genetic differences between the cancer cells and the normal cells. It needs a thorough understanding of the cancer cells to develop drugs that can target specific molecular aspects that drive the growth, progression, and spread of cancer cells without affecting the growth and survival of other normal cells in the body.
There are several types of targeted therapies against...
There are several types of targeted therapies against...
7.5K
mTOR Signaling and Cancer Progression
3.8K
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...
3.8K
Abnormal Proliferation
4.5K
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...
4.5K
