在外骨髓性多发性髓瘤的遗传异常.
Roisin McAvera1, John Quinn2,3, Philip Murphy2
1Department of Pathology, Royal College of Surgeons in Ireland, D09 YD60 Dublin, Ireland.
International journal of molecular sciences
|July 29, 2023
概括
多发性骨髓瘤 (MM) 中的外骨髓性疾病 (EMD) 正在增加,而且人们对其了解甚少. 本综述总结了驱动EMD的遗传因素,提供了对这种侵袭性癌症进展的见解.
科学领域:
- 血液学 血液学 血液学
- 在瘤学瘤学.
- 遗传学 是一个遗传学.
背景情况:
- 外骨髓性疾病 (EMD) 是多发性骨髓瘤 (MM) 的一种攻击性表现,恶性血细胞在骨髓外扩散.
- 随着新型抗髓瘤疗法的出现,EMD的发病率正在上升,这给临床带来了重大挑战.
- 了解骨髓逃逸和EMD发育的机制对于改善患者的治疗结果至关重要.
研究的目的:
- 审查和综合当前关于多发性骨髓瘤外骨髓性疾病遗传基础的知识.
- 要突出与EMD建立和进展相关的关键遗传变化和表观遗传变化.
主要方法:
- 文献综述侧重于多发性骨髓瘤中外骨髓性疾病的遗传和表观遗传研究.
- 综合与细胞遗传异常,基因突变和EMD中的表观遗传修饰相关的发现.
主要成果:
- 高风险的细胞遗传异常和特定的基因特征与EMD有关.
- 在EMD中经常观察到RAS信号通路的突变.
- 表观遗传变化,特别是促进区域的DNA高甲基化,越来越多地被认为是EMD的驱动因素.
结论:
- EMD的遗传场景是不同的,涉及特定的分子事件,使血细胞传播.
- 进一步研究EMD的基因组学和表观基因组学对于开发向疗法至关重要.
- 识别EMD驱动事件可以为多发性髓瘤患者带来更好的风险分层和治疗策略.
相关概念视频
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
Induced Pluripotent Stem Cells
4.2K
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...
4.2K
Cancers Originate from Somatic Mutations in a Single Cell
12.0K
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...
12.0K


