Related Experiment Video

Updated: Jan 21, 2026

Exon Skipping in Directly Reprogrammed Myotubes Obtained from Human Urine-Derived Cells
06:20

Exon Skipping in Directly Reprogrammed Myotubes Obtained from Human Urine-Derived Cells

Published on: May 7, 2020

7.4K

MET exon 14 skipping mutations and gene amplification in a Taiwanese lung cancer population

Jrhau Lung1, Ming-Szu Hung2,3,4, Yu-Ching Lin2,3,4

  • 1Department of Medical Research and Development, Chang Gung Memorial Hospital, Chiayi branch, Taiwan.

Plos One
|August 2, 2019
PubMed

Insights

MET exon 14 skipping mutations and amplification are rare in Taiwanese lung cancers (~1%). These alterations do not cause protein overexpression, suggesting nucleic acid testing is ideal for detection. Further research is needed for MET target therapy.

Area of Science:

  • Oncology
  • Molecular Biology
  • Genetics

Background:

  • Somatic mutations in the MET gene are recognized as significant driver mutations in lung cancer development.
  • Understanding the clinicopathological characteristics of MET alterations is crucial for targeted therapy.

Purpose of the Study:

  • To identify clinicopathological features of MET exon 14 skipping mutations and gene amplification in lung cancer.
  • To determine if these MET alterations lead to protein overexpression.
  • To evaluate the frequency of these alterations in the Taiwanese lung cancer population.

Main Methods:

  • Analysis of 196 lung cancer samples from Taiwan.
  • Utilized real-time quantitative polymerase chain reaction (qPCR) and sequencing for mutation detection.
  • Employed fluorescence in situ hybridization (FISH) for gene amplification analysis.
  • Immunohistochemistry (IHC) was used to assess protein expression levels.

Main Results:

  • MET exon 14 skipping mutations and MET gene amplification were found at a low frequency of approximately 1% in the study cohort.
  • MET exon 14 skipping mutations were observed in two early-stage patients with advanced age and no other driver mutations; one had adenocarcinoma, the other a rare carcinosarcoma.
  • Three cases of MET gene amplification were identified.
  • Neither MET exon 14 skipping mutations nor gene amplification resulted in MET protein overexpression.

Conclusions:

  • Direct nucleic acid level detection is a preferred method for identifying MET exon 14 skipping mutations due to lack of protein overexpression.
  • The occurrence of MET exon 14 mutations in rare histological types necessitates expanding screening for this mutation in lung cancer.
  • Further investigation into MET mutations in diverse lung cancer subtypes and their role in treatment response is vital for advancing MET-targeted therapies.

More Related Videos

Multi-exon Skipping Using Cocktail Antisense Oligonucleotides in the Canine X-linked Muscular Dystrophy10:30

Multi-exon Skipping Using Cocktail Antisense Oligonucleotides in the Canine X-linked Muscular Dystrophy

Published on: May 24, 2016

19.2K
Characterizing Exon Skipping Efficiency in DMD Patient Samples in Clinical Trials of Antisense Oligonucleotides05:16

Characterizing Exon Skipping Efficiency in DMD Patient Samples in Clinical Trials of Antisense Oligonucleotides

Published on: May 7, 2020

7.3K

Related Concept Videos

Mutation, Gene Flow, and Genetic Drift01:09

Mutation, Gene Flow, and Genetic Drift

In a population that is not at Hardy-Weinberg equilibrium, the frequency of alleles changes over time. Therefore, any deviations from the five conditions of Hardy-Weinberg equilibrium can alter the genetic variation of a given population. Conditions that change the genetic variability of a population include mutations, natural selection, non-random mating, gene flow, and genetic drift (small population size).
62.9K
Exon Recombination02:32

Exon Recombination

The evolution of new genes is critical for speciation. Exon recombination, also known as exon shuffling or domain shuffling, is an important means of new gene formation. It is observed across vertebrates, invertebrates, and in some plants such as potatoes and sunflowers. During exon recombination, exons from the same or different genes recombine and produce new exon-intron combinations, which might evolve into new genes. 
Exon shuffling follows “splice frame rules.” Each exon...
4.1K
Mutations01:39

Mutations

Overview
94.4K
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...
14.6K
What is Population Genetics?01:25

What is Population Genetics?

A population is composed of members of the same species that simultaneously live and interact in the same area. When individuals in a population breed, they pass down their genes to their offspring. Many of these genes are polymorphic, meaning that they occur in multiple variants. Such variations of a gene are referred to as alleles. The collective set of all the alleles within a population is known as the gene pool.
64.5K
Viral Mutations00:36

Viral Mutations

A mutation is a change in the sequence of bases of DNA or RNA in a genome. Some mutations occur during replication of the genome due to errors made by the polymerase enzymes that replicate DNA or RNA. Unlike DNA polymerase, RNA polymerase is prone to errors because it is not capable of “proofreading” its work. Viruses with RNA-based genomes, like HIV, therefore accrue mutations faster than viruses with DNA-based genomes. Because mutation and recombination provide the raw material...
39.8K