在携带生殖系CHEK2突变的个体中,GI多和多重症
Corey Chang1,2, John E Lee1, Kevin M Waters1
1Department of Pathology and Laboratory Medicine, Cedars-Sinai Medical Center, Los Angeles, California.
Diseases of the colon and rectum
|July 3, 2024
概括
胚胎检查点激酶2 (CHEK2) 突变与胃肠多重症有关. 患有CHEK2突变的患者,特别是p.S428F变异,表现出右侧结肠腺瘤的高发病率,需要进行向结肠镜检查.
科学领域:
- 在瘤学瘤学.
- 遗传学 是一个遗传学.
- 胃肠病学 胃肠病学
背景情况:
- 检查点酶2 (CHEK2) 是DNA损伤反应途径中的关键瘤抑制基因.
- CHEK2的生殖基因突变与各种癌症有关,并且越来越多地认识到它与胃肠多重症的关联.
- 对于具有多重结肠多片病史的个人,建议对CHEK2突变进行遗传检测.
研究的目的:
- 调查生殖线CHEK2突变与减弱或寡头多重症之间的关联.
- 描述患有生殖线CHEK2突变的患者的胃肠道临床病理学概况.
- 为了确定与多重体发育和特征相关的特定CHEK2突变模式.
主要方法:
- 使用了回顾性观察性研究设计.
- 审查了在1999年至2020年期间接受内镜检查的45名确诊生殖线CHEK2突变的患者的医疗记录.
- 临床病理学变量,包括多类型,位置和数量,被系统地描述和分析.
主要成果:
- 在45名患者中,有25名患者 (55.6%) 呈现胃肠多,其中17名患有下部胃肠多.
- 在多患者中发现的常见CHEK2突变包括p.S428F (n=10),p.I157T (n=4) 和p.T476M (n=2).
- 五名患者 (11.1%) 患有结直肠腺癌,p.S428F突变患者主要患有右侧腺瘤 (50%).
结论:
- 在诊断多症患者的诊断工作中,应考虑生殖线CHEK2突变.
- 在p.S428F CHEK2突变患者中观察到右侧腺瘤的高频率强调了彻底右侧结肠镜检查的重要性.
- 进一步的研究可能会阐明将CHEK2突变与不同的多重体表型和癌症风险联系在一起的特定机制.
相关概念视频
02:23Abnormal 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
01:33Cancer-Critical Genes I: Proto-oncogenes
8.8K
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...
8.8K
01:35Pedigree Analysis
84.2K
Overview
84.2K
02:21Cancers Originate from Somatic Mutations in a Single Cell
11.9K
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...
11.9K
01:05Cancer-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
01:20The 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