在急性髓性白血病的RAD21突变
Dorottya Laczko1, Corey Poveda-Rogers2, Andrew H Matthews3
1Department of Pathology and Laboratory Medicine, Hospital of the University of Pennsylvania and Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Leukemia & lymphoma
|March 20, 2024
概括
凝聚素复合体成员RAD21基因的突变与特定的急性髓性白血病 (AML) 特征和不良预后有关. 需要进一步的研究来确认RAD21突变作为AML的独立预后因素.
科学领域:
- 分子生物学分子生物学
- 血液学 血液学 血液学
- 在瘤学瘤学.
背景情况:
- 凝聚蛋白复合体在DNA修复和染色体分离中起着至关重要的作用.
- 凝聚蛋白复合体成员的基因组变化,特别是STAG2,是急性髓性白血病 (AML) 发展的早期事件.
- 其他凝聚蛋白成员的突变,如RAD21,在骨髓瘤瘤中扮演的角色尚不清楚.
研究的目的:
- 研究AML中的RAD21突变的频率,突变特征,临床病理特征和预后影响.
- 为RAD21突变的AML.提供对基因组景观的见解.
- 评估RAD21突变在AML中的潜在独立预后意义.
主要方法:
- 从1381名AML患者的分子概况的回顾性分析.
- 14名RAD21突变患者的鉴定和特征.
- 评估与RAD21突变相关的临床病理特征和结果.
主要成果:
- 在1381名AML患者中,有14人发现了RAD21突变.
- RAD21突变的AML经常呈现出单细胞分化和CD7表达.
- 相关特征包括表观遗传调节者的共存突变,正常的型和不良预后.
结论:
- 在AML中,RAD21突变与独特的形态,免疫类型和基因组特征有关.
- 这些发现表明RAD21突变可能在AML中具有独立的预后意义.
- 对于AML患者的风险分层,需要进一步评估RAD21突变.
相关概念视频
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
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
6.2K
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...
6.2K
Alternative RNA Splicing
21.1K
Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
21.1K
Cancer-Critical Genes II: Tumor Suppressor Genes
7.4K
Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
7.4K
Rous Sarcoma Virus (RSV) and Cancer
5.1K
Rous Sarcoma virus or RSV was discovered by F. Peyton Rous in the year 1911 as a filterable transmissible agent that could cause tumors in chickens. He won a Nobel Prize for this discovery in 1966. His experiments clearly demonstrated that some cancers could be caused by infectious agents and led to the discovery of many more cancer-causing viruses in animals as well as humans.
RSV is a retrovirus that contains two copies of a plus-strand RNA genome. Its genome consists of four main open...
RSV is a retrovirus that contains two copies of a plus-strand RNA genome. Its genome consists of four main open...
5.1K


