儿童先天性肺形的基因组不稳定性
Ronald Rodrigues de Moura1, Sara Patrizi2, Emmanouil Athanasakis1
1Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste, Italy.
Pediatric surgery international
|September 5, 2024
概括
在30%的病例中,先天性肺形 (CLM) 显示基因组不稳定性和瘤发育变异,增加肺癌风险. 这种CLM的基因组不稳定性是恶性瘤的诱导因素.
科学领域:
- 肺部医学 肺部医学
- 遗传学 遗传学 是一个
- 在瘤学瘤学.
背景情况:
- 先天性肺形 (CLMs) 是肺的罕见发育异常.
- 结核细胞瘤和肺癌之间的关联表明存在潜在的生物联系.
- 了解这种关系对于早期发现和预防策略至关重要.
研究的目的:
- 为了研究先天性肺形和恶性瘤之间的生物学关系.
- 为了识别可能导致癌症发展的CLM内的遗传变化.
主要方法:
- 全基因组测序是从12个CPAM,6个内和2个外测序的活检上进行的.
- 使用桑格测序和血液样本识别和确认了体质单核酸变异 (SNVs).
- 分析包括评估基因组不稳定性和特定瘤转化相关的SNVs.
主要成果:
- 95%的CLM表现出多个基因突变集群的基因不稳定性.
- 在20个CLM中6个中发现了7个与瘤转化相关的SNV.
- 与肺癌相关的罕见SNV被确定在5p15.33区域,TERT瘤基因的上游,以及RET,FANCA和MET基因的变异.
结论:
- 在CLM的基因组不稳定性是恶性瘤的显著诱导因素.
- 与瘤发育相关的遗传变异存在于30%的CLM中,不论其组织病理.
- 基因组不稳定性,特定的遗传变异和致癌物暴露的结合可能会在患有CLM的个体中引发肺癌的发展.
相关概念视频
Genomic Imprinting and Inheritance
34.2K
Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
34.2K
Mutations
81.1K
Overview
81.1K
Cancers Originate from Somatic Mutations in a Single Cell
11.8K
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...
11.8K
Mismatch Repair
4.8K
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...
4.8K
Cancer Prevention
6.1K
Several factors can increase the risk of cancer in an individual. About 50% of cancer cases can be prevented by adopting a healthy lifestyle, regular exercise, eating healthy, and following a modest cancer prevention diet. Epidemiological studies have consistently shown that populations with vegetable and fruit-rich diets have reduced the incidence of cancer. On the other hand, populations who have a diet rich in animal fat, red meat, junk food, or high calories are predisposed to cancer.
Some...
Some...
6.1K
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


