在HPV独立的 vulva瘤中的病理变异
Sanja A Farkas1, Alvida Qvick2, Gisela Helenius3
1Department of Laboratory Medicine, Clinical Pathology and Genetics, Faculty of Medicine and Health, Örebro University, Örebro, Sweden. sanja.farkas@oru.se.
Scientific reports
|January 9, 2025
概括
与HPV相关的瘤相比,人类乳头瘤病毒 (HPV) 独立的瘤呈现出更大的分子异质性和更多的单核酸变体 (SNV). 与HPV相关的癌更频繁地表现出基因放大,这表明不同的遗传途径.
科学领域:
- 妇科瘤学 妇科瘤学
- 癌症基因组学 癌症基因组学
- 人类乳头瘤病毒 (HPV) 研究研究
背景情况:
- 癌是一种罕见的妇科恶性瘤.
- 人类乳头瘤病毒 (HPV) 感染是癌的已知原因之一.
- 对于与HPV相关的与HPV独立的 vulvar瘤,人们怀疑有不同的分子途径,这需要进一步研究针对性疗法.
研究的目的:
- 为了研究和比较HPV相关和HPV独立的 vulvar瘤的突变格局.
- 为了确定不同的基因变化和生物学机制背后的不同癌亚型.
- 为开发个性化治疗策略提供见解.
主要方法:
- 分析了32名阴道癌患者 (16名HPV阴性,16名HPV相关) 的甲固定嵌 (FFPE) 瘤样本.
- 利用OncomineTM综合测试v3用于检测161个瘤相关基因 (DNA和RNA分析) 的遗传变异.
- 雇佣了VarSome临床软件,提供自定义过器,用于变种分析和分类.
主要成果:
- 与HPV相关的瘤相比,HPV阴性瘤表现出更多的单核酸变异 (SNV) 和更多的未知意义变异 (VUS) 或致病变异.
- 与HPV相关的瘤显示出更频繁的副本数变异 (CNV),特别是在cMYC,CDK2和CDK4等基因中.
- 在HPV独立瘤中常见的突变基因包括TP53,POLE和BRCA2. 在两组中都观察到融合基因和途径改变 (PI3K/AKT/mTOR1,细胞循环调节).
结论:
- 癌呈现出多样化的遗传变异,HPV独立的瘤是分子异质的,与HPV相关的瘤显示出更多的基因放大.
- PI3K/AKT/mTOR1和细胞循环调节途径都与两种癌类型有关.
- DNA修复基因POLE是HPV相关的和独立的癌的潜在目标.
相关概念视频
Skin Cancer
3.1K
Skin cancer is a type of cancer that occurs when there is an abnormal growth of skin cells, usually triggered by damage to the DNA within the skin cells. It is primarily caused by exposure to ultraviolet (UV) radiation from the sun or artificial sources like tanning beds. Skin cancer is the most common type of cancer worldwide, and its incidence continues to rise.
Basal Cell Carcinoma (BCC): BCC is the most common type of skin cancer, accounting for about 80% of cases. It typically develops in...
Basal Cell Carcinoma (BCC): BCC is the most common type of skin cancer, accounting for about 80% of cases. It typically develops in...
3.1K
Cancers Originate from Somatic Mutations in a Single Cell
11.5K
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...
11.5K
Loss of Tumor Suppressor Gene Functions
4.7K
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.
When the tumor suppressor genes develop mutations or are lost, cells start growing out of control, leading to cancer. However, a single functional copy of the tumor suppressor gene is enough for the cells to maintain their normal functions and cell...
When the tumor suppressor genes develop mutations or are lost, cells start growing out of control, leading to cancer. However, a single functional copy of the tumor suppressor gene is enough for the cells to maintain their normal functions and cell...
4.7K
Abnormal Proliferation
4.4K
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...
4.4K
Cancer-Critical Genes II: Tumor Suppressor Genes
7.3K
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...
7.3K
Cancer
47.8K
Cancers arise due to mutations in genes involved in the regulation of cell division, which leads to unrestricted cell proliferation. Modern science and medicine have made great strides in the understanding and treatment of cancer, including eradicating cancer in some patients. However, there is still no cure for cancer. This is largely due to the fact that cancer is a large group of many diseases.
47.8K


