在SMARCA4突变恶性瘤患者的性别和共突变依赖的预后
Minggui Pan1,2,3, Chen Jiang2, Zheyang Zhang4
1Department of Oncology and Hematology, Kaiser Permanente, Santa Clara, CA 94051, USA.
Cancers
|June 22, 2023
概括
患有SMARCA4突变癌症的男性患者的预后比女性更差. 像TP53和KRAS这样的共同突变也会对这些患者的存活率产生不同的影响.
科学领域:
- 在瘤学瘤学.
- 遗传学 是一个遗传学.
- 癌症预后 癌症预后
背景情况:
- 对SMARCA4突变 (mutSMARCA4) 癌症的预后因素尚未完全理解.
- 患者的性别和同时发生的突变对mutSMARCA4恶性瘤的结果的影响需要进行研究.
研究的目的:
- 为了研究性别和特定共突变对患有mutSMARCA4癌症的患者整体存活 (OS) 的影响.
- 为了确定mutSMARCA4队列内的共同突变的差异预后关联,特别是在非小细胞肺癌 (NSCLC) 中.
主要方法:
- 从2020年8月到2022年10月,对125名通过下一代测序 (NGS) 识别的mutSMARCA4癌症患者进行了回顾性队列研究.
- 考克斯回归建模被用来分析性别,共同突变 (TP53,KRAS,CDKN2A,STK11,Keap1) 和整体存活 (OS) 之间的关联.
- 对整个队列进行了分析,并按NSCLC子组分层.
主要成果:
- 与女性相比,男性患者在总体mutSMARCA4队列 (中位数OS3.0与43.3个月) 和NSCLC亚组 (中位数OS2.75个月与不可估计) 中的生存状况明显差.
- 在TP53 (mutp53) 和STK11 (mutSTK11) 中的突变与整体队列中更糟糕的生存状况有关.
- 在NSCLC小组中,mutp53和mutKRAS与更好的OS有关,而mutCDKN2A,mutSTK11和mutKeap1与更糟糕的OS有关.
结论:
- 性别和共同突变显著影响了mutSMARCA4癌症患者的预后.
- 男人与预后明显差,而特定的共同突变 (TP53,KRAS,CDKN2A,STK11,Keap1) 显示出不同的预后影响.
- 这些发现表明,潜在的性别和共变异依赖的机制是mutSMARCA4瘤的预后差异的基础.
相关概念视频
Mismatch Repair
4.9K
Organisms are capable of detecting and fixing nucleotide mismatches that occur during DNA replication. This sophisticated process requires identifying the new strand and replacing the erroneous bases with correct nucleotides. Mismatch repair is coordinated by many proteins in both prokaryotes and eukaryotes.
The Mutator Protein Family Plays a Key Role in DNA Mismatch Repair
The human genome has more than 3 billion base pairs of DNA per cell. Prior to cell division, that vast amount of genetic...
The Mutator Protein Family Plays a Key Role in DNA Mismatch Repair
The human genome has more than 3 billion base pairs of DNA per cell. Prior to cell division, that vast amount of genetic...
4.9K
Cancer Survival Analysis
402
Cancer survival analysis focuses on quantifying and interpreting the time from a key starting point, such as diagnosis or the initiation of treatment, to a specific endpoint, such as remission or death. This analysis provides critical insights into treatment effectiveness and factors that influence patient outcomes, helping to shape clinical decisions and guide prognostic evaluations. A cornerstone of oncology research, survival analysis tackles the challenges of skewed, non-normally...
402
Tumor Progression
6.4K
Tumor progression is a phenomenon where the pre-formed tumor acquires successive mutations to become clinically more aggressive and malignant. In the 1950s, Foulds first described the stepwise progression of cancer cells through successive stages.
Colon cancer is one of the best-documented examples of tumor progression. Early mutation in the APC gene in colon cells causes a small growth on the colon wall called a polyp. With time, this polyp grows into a benign, pre-cancerous tumor. Further...
Colon cancer is one of the best-documented examples of tumor progression. Early mutation in the APC gene in colon cells causes a small growth on the colon wall called a polyp. With time, this polyp grows into a benign, pre-cancerous tumor. Further...
6.4K
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
Cancers Originate from Somatic Mutations in a Single Cell
12.1K
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...
12.1K


