相关实验视频

Updated: Jul 26, 2025

Yeast As a Chassis for Developing Functional Assays to Study Human P53

Yeast As a Chassis for Developing Functional Assays to Study Human P53

Published on: August 4, 2019

p53/TP53 胃食道腺癌的状态评估

Elisa Boldrin¹, Maria Assunta Piano¹, Francesco Bernaudo¹

¹Immunology and Molecular Oncology Diagnostics Unit, Veneto Institute of Oncology IOV-IRCCS, 35128 Padova, Italy.

|June 22, 2023

概括

胃食道腺癌 (GEA) 的染色体不稳定性经常被p53免疫组织化学 (IHC) 遗漏. 使用滴滴数字PCR (ddPCR) 和下一代测序 (NGS) 的分子测试可以提高TP53变化的检测.

科学领域:

在瘤学瘤学.
分子诊断学分子诊断学
遗传学是一个遗传学.

背景情况:

染色体不稳定性 (CIN) 是胃食道腺癌 (GEA) 的标志.
在GEA中,TP53缺失和突变很常见,导致通过免疫组织化学 (IHC) 检测到的p53核积累.
目前的IHC方法可能会低估TP53变化的全部程度和相关的CIN表型.

研究的目的:

为了增强检测异常TP53在GEA.
评估滴滴数字PCR (ddPCR) 对于TP53删除分析在甲固定,嵌DNA (FFPE-DNA) 和无细胞DNA (cfDNA) 中.
在FFPE样本中使用下一代测序 (NGS) 调查TP53突变特征.

主要方法:

用滴滴数字PCR (ddPCR) 评估FPE-DNA和cfDNA中的TP53删除.
下一代测序 (NGS) 在一组FFPE样本上进行,以分析TP53突变.
TP53 IHC染色水平 (低,中,高) 与分子发现相关.

主要成果:

与"中间"组相比,在"低"和"高"IHC染色组组合中观察到TP53删除事件的比例显著更高 (72.9%与47.5%,p=0.002).
对cfDNA的ddPCR测定显示出与FFPE-DNA分析的良好一致 (72.7%,Cohen的kappa=0.48),特别是在"低水平"IHC组.
NGS分析显示,66.7%的"低级"IHC病例中存在破坏性TP53突变,表明p53丢失.

结论:

单独的IHC可能会低估GEA中的CIN表型.
分子分析,包括ddPCR和NGS,在固体 (FFPE) 和液体 (cfDNA) 活检中可以补充IHC.
整合分子测试对于完全负 p53 IHC 染色的病例尤为有价值.

关键词:

这就是TP53的特点.没有细胞的DNA (cfDNA)染色体的不稳定性 (CIN)滴滴数码PCR (ddPCR) 是一种胃食道腺癌瘤液体活检活检液体活检下一代测序 (NGS) 是指下一代的测序.在 p53 里,p53 是一个 p53 的代码.

更多相关视频

Genome-Wide Analysis of DNA Methylation in Gastrointestinal Cancer

Genome-Wide Analysis of DNA Methylation in Gastrointestinal Cancer

Published on: September 18, 2020

Development of Compendium for Esophageal Squamous Cell Carcinoma

Development of Compendium for Esophageal Squamous Cell Carcinoma

Published on: April 12, 2024

相关概念视频

Abnormal Proliferation

Abnormal Proliferation

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...

Barrett Esophagus-I: Introduction

Barrett Esophagus-I: Introduction

Barrett's esophagus is a medical condition where the esophageal mucosa is significantly damaged by stomach acid or other digestive fluids, often due to long-term exposure associated with gastroesophageal reflux disease (GERD). In GERD, a weakened or abnormally relaxed lower esophageal sphincter allows stomach acid to flow persistently into the esophagus.
This constant acid exposure transforms the esophagus's pink mucosal lining (stratified squamous epithelium) into a type of lining more...

Tumor Progression

Tumor Progression

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...