Related Experiment Video

Updated: Aug 18, 2026

Genetic Profiling and Genome-Scale Dropout Screening to Identify Therapeutic Targets in Mouse Models of Malignant Peripheral Nerve Sheath Tumor
09:33

Genetic Profiling and Genome-Scale Dropout Screening to Identify Therapeutic Targets in Mouse Models of Malignant Peripheral Nerve Sheath Tumor

Published on: August 25, 2023

Genetic aberrance of sporadic MEN 2A component tumours: analysis of RET

Nam Hoon Cho1, Hyun Woo Lee, Shin Young Lim

  • 1Department of Pathology, Yonsei University College of Medicine, Seoul, South Korea. cho1988@yumc.yonsei.ac.kr

Pathology
|May 7, 2005
PubMed
Abstract

Insights

Genetic mutations in the RET proto-oncogene are uncommon in sporadic medullary thyroid carcinoma (MTC). These RET mutations appear to play an insignificant role in the development of sporadic MTC and other endocrine tumors.

Area of Science:

  • Endocrinology
  • Oncology
  • Molecular Genetics

Background:

  • Familial multiple endocrine neoplasia (MEN) type 2 is linked to germline RET proto-oncogene mutations.
  • The role of RET mutations in sporadic endocrine tumors, particularly MEN 2 components, requires clarification.

Purpose of the Study:

  • To investigate the association between RET mutations and the tumorigenesis of sporadic MEN 2 component tumors.
  • To determine the incidence and significance of RET mutations in sporadic medullary thyroid carcinomas, adrenal pheochromocytomas, paragangliomas, and parathyroid adenomas.

Main Methods:

  • Direct sequencing of RET exons 10-16 and immunohistochemistry for RET were performed on 84 archival cases of sporadic endocrine tumors.
  • Tumor types included medullary thyroid carcinomas (MTCs), adrenal pheochromocytomas (APCs), paragangliomas (PGs), and parathyroid adenomas (PTAs).

Main Results:

  • Somatic point missense mutations in RET exon 13 were identified in 22.7% of sporadic MTCs.
  • No significant association between RET genotype and morphology was found in MTCs or APCs.
  • Adrenal pheochromocytomas showed significantly lower RET immunoexpression compared to paragangliomas.

Conclusions:

  • RET gene mutations have a low incidence and likely play a minor role in the molecular pathogenesis of sporadic MTC.
  • The molecular mechanisms underlying paragangliomas and adrenal pheochromocytomas appear distinct, despite shared embryological and histological features.

More Related Videos

gDNA Enrichment by a Transposase-based Technology for NGS Analysis of the Whole Sequence of BRCA1, BRCA2, and 9 Genes Involved in DNA Damage Repair08:15

gDNA Enrichment by a Transposase-based Technology for NGS Analysis of the Whole Sequence of BRCA1, BRCA2, and 9 Genes Involved in DNA Damage Repair

Published on: October 6, 2014

Related Concept Videos

The Retinoblastoma Gene01:20

The Retinoblastoma Gene

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,...
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...
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...
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...
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...
Mismatch Repair01:20

Mismatch Repair

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...