染色体11p15.5的变化作为胚胎狂宫肌肉瘤的特定标志物?
Ales Vicha1, Pavla Jencova1, Daniela Novakova-Kodetova2
1Department of Pediatric Hematology and Oncology, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic.
Genes, chromosomes & cancer
|August 2, 2023
概括
11p15.5的父单亲异构 (pUPD) 是常见的rhabdomyosarcomas (RMS),不仅仅是胚胎类型. 确定了胚胎RMS和膜RMS的新诊断标记,扩大了我们对这些罕见癌症的理解.
科学领域:
- 在瘤学瘤学.
- 分子遗传学 分子遗传学
- 癌症基因组学 癌症基因组学
背景情况:
- 轮骨髓瘤 (RMS) 是一组多样化的瘤,具有不同的临床和形态特征.
- 染色体11p15.5的父单亲异构 (pUPD) 是一种已知的分子变异,主要与胚胎RMS (ERMS) 相关.
- MLPA技术提供了对拷贝数变异和基因甲基化,包括H19和KCNQ1OT1的全面分析,这就需要在RMS中进行系统的调查.
研究的目的:
- 为了研究在11p15.5的分子变化的频率和频谱,在127个RMS瘤的队列中,在不同的组织学亚型中.
- 确定pUPD 11p15.5是否仅存在于ERMS或其他RMS亚型中,如膜RMS (ARMS).
- 使用MLPA分析识别ERMS和ARMS的新型分子标记物.
主要方法:
- 对127个RMS瘤进行了MLPA (ME030套件) 分析.
- 根据组织学和PAX融合状态,瘤被分为四组:多形,PAX阳性ARMS,ERMS和PAX阴性ARMS与膜模式.
- 分析包括检测异构性丧失 (LOH),UPD,拷贝数变异以及H19和KCNQ1OT1.1.的甲基化状态.
主要成果:
- pUPD 11p15.5在75个瘤中检测到,并且在所有RMS亚型中没有显著差异.
- 新发现包括父方等位基因的增加 (9个瘤),母方等位基因的丧失 (9个瘤),H19高甲基化 (6个瘤),KCNQ1OT1低甲基化 (6个瘤) 和CDKN1C删除 (1个瘤).
- pUPD 11p15.5在ERMS和ARMS中发现,挑战了它对ERMS的独家概念.
结论:
- 11p15.5中的变化不仅仅局限于ERMS,而且在ARMS中也经常观察到.
- 新的ERMS潜在的诊断标记包括父亲的重复和全染色体11 UPD.
- 低甲基化KCNQ1OT1已经成为PAX阳性ARMS的潜在诊断标志物.
相关概念视频
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
02:23Abnormal 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
01:17Karyotyping
61.8K
Overview
61.8K
01:03Rous 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