Related Experiment Video

Updated: Aug 10, 2026

Yeast As a Chassis for Developing Functional Assays to Study Human P53
14:57

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

Published on: August 4, 2019

p53 Gene mutation and genetic instability in superficial multifocal esophageal squamous cell carcinoma

Takehiro Fujiki1, Seiji Haraoka, Shingo Yoshioka

  • 1Department of Pathology, School of Medicine, Fukuoka University, Fukuoka, Japan.

International Journal of Oncology
|March 15, 2002
PubMed

Insights

Genetic instability and p53 gene alterations drive multifocal esophageal squamous cell carcinoma (SCC). These genetic changes, including microsatellite instability and loss of heterozygosity, appear early in the development of this complex cancer.

Area of Science:

  • Oncology
  • Genetics
  • Gastroenterology

Background:

  • Multicentricity, the presence of multiple independent tumors, is an occasional feature of esophageal squamous cell carcinoma (SCC).
  • Understanding the genetic underpinnings of multifocal SCC is crucial for elucidating its carcinogenesis pathway.

Purpose of the Study:

  • To investigate p53 gene mutations and genetic instability in surgically resected superficial multifocal esophageal SCC.
  • To determine if these genetic alterations are early events in the multistage development of multifocal esophageal SCC.

Main Methods:

  • DNA analysis from microdissected areas of SCC, dysplasia, basal cell hyperplasia (BCH), and normal squamous epithelium.
  • Assessed replication error (RER) at 10 microsatellite loci for microsatellite instability.
  • Analyzed p53 gene mutations, including missense mutations and loss of heterozygosity (LOH).
  • Evaluated LOH at specific loci near MSH2 and MLH1 genes.

Main Results:

  • Microsatellite instability was present in all analyzed areas, including normal epithelium.
  • p53 gene mutations were found in 28.9% of target areas, with a common missense mutation in exon 8.
  • Loss of heterozygosity (LOH) of the p53 gene was detected in 83.8% of target areas.
  • LOH at p53 and D2S123 loci showed similar frequencies in non-cancerous and cancerous areas, suggesting early occurrence.

Conclusions:

  • Genetic instability, characterized by microsatellite alterations and p53 gene changes (mutation and LOH), appears to be a key driver of tumor multicentricity in esophageal SCC.
  • p53 gene contact mutation and LOH are likely early events in the multistage carcinogenesis process of multifocal primary esophageal SCC.

More Related Videos

Modeling Oral-Esophageal Squamous Cell Carcinoma in 3D Organoids10:43

Modeling Oral-Esophageal Squamous Cell Carcinoma in 3D Organoids

Published on: December 23, 2022

Detection of Aggregation-Prone Behavior in Mutant P53 V157F Breast Cancer Cells Using Multipoint Thioflavin T Fluorescence04:56

Detection of Aggregation-Prone Behavior in Mutant P53 V157F Breast Cancer Cells Using Multipoint Thioflavin T Fluorescence

Published on: December 30, 2025

Related Concept Videos

Conservative Site-specific Recombination and Phase Variation02:53

Conservative Site-specific Recombination and Phase Variation

Because the DNA segments are cut and reorganized in a direction-specific manner, site-specific recombination has emerged as an efficient genetic engineering technique. Flippase and Cyclization recombinases or Flp and Cre, respectively, are two members of the tyrosine recombinase family derived from bacteriophages, that are used to mediate site-specific DNA insertions, deletions, and targeted expression of proteins in mammalian cell lines.
The recognition sites for Cre recombinase called LoxP...
Abnormal Proliferation02:23

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 daughter...
Cancers Originate from Somatic Mutations in a Single Cell02:21

Cancers Originate from Somatic Mutations in a Single Cell

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...
Cancer-Critical Genes II: Tumor Suppressor Genes01:05

Cancer-Critical Genes II: Tumor Suppressor Genes

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...
Induced Pluripotent Stem Cells01:06

Induced Pluripotent Stem Cells

Stem cells are undifferentiated cells that divide and produce different cell types. Ordinarily, cells that have differentiated into a specific cell type are terminally differentiated; however, scientists have found a way to reprogram these mature cells so that they dedifferentiate and return to an unspecialized, proliferative state. These cells are pluripotent like embryonic stem cells—able to produce all cell types—and are called induced pluripotent stem cells (iPSCs).
Somatic cells are...
Barrett Esophagus-I: Introduction01:21

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 similar...