乳房非典型的囊性高分泌性病变通常是TP53改变的所在地
Baris Boyraz1, Dennis C Sgroi1, A John Iafrate1
1Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
Histopathology
|September 29, 2023
概括
这项研究调查了乳房中罕见的囊性高分泌性病变,发现非典型的囊性高分泌性增生症 (A-CHH) 和局部囊性高分泌性癌症 (CHC-IS) 经常显示TP53基因变异.
科学领域:
- 在瘤学瘤学.
- 遗传学 是一个遗传学.
- 乳腺病理学 乳腺病理学
背景情况:
- 囊性高分泌性病变 (CHL) 是一种罕见的乳腺病理.
- 非典型的囊性高分泌性增生症 (A-CHH) 和局部囊性高分泌性癌症 (CHC-IS) 是CHL的亚型.
- 这些病变的遗传特征在很大程度上是未知的.
研究的目的:
- 为了描述罕见的囊性高分泌性病变中的分子变化.
- 研究TP53基因变异在A-CHH和CHC-IS中的作用.
主要方法:
- 七个CHL病例 (四个A-CHH,3个CHC-IS) 的回顾性分析.
- 形态和细胞学评估.
- 104个与癌症相关的基因的下一代测序.
- p53 免疫组织化学.
主要成果:
- 在四个测序的病变中,有三种病变中发现了TP53基因变异.
- p53免疫组织化学证实了TP53在一个A-CHH和三个CHC-IS的改变.
- 与A-CHH相比,CHC-IS显示出更明显的导管内增殖和异型.
结论:
- 非典型的囊性高分泌性病变,包括A-CHH和CHC-IS,通常存在TP53的改变.
- 这是第一个研究分子特征这种罕见的乳腺病变的子集.
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
Tumor Progression
6.4K
Tumor progression is a phenomenon where the pre-formed tumor acquires successive mutations to become clinically more aggressive and malignant. In the 1950s, Foulds first described the stepwise progression of cancer cells through successive stages.
Colon cancer is one of the best-documented examples of tumor progression. Early mutation in the APC gene in colon cells causes a small growth on the colon wall called a polyp. With time, this polyp grows into a benign, pre-cancerous tumor. Further...
Colon cancer is one of the best-documented examples of tumor progression. Early mutation in the APC gene in colon cells causes a small growth on the colon wall called a polyp. With time, this polyp grows into a benign, pre-cancerous tumor. Further...
6.4K
Cancer-Critical Genes I: Proto-oncogenes
9.0K
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...
9.0K
Cystic Fibrosis: Pathogenesis
269
Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
269
Cancer-Critical Genes II: Tumor Suppressor Genes
7.5K
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...
7.5K


