Related Experiment Video
Updated: May 11, 2026
11:15
Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
Published on: September 20, 2016
Rare mutations in non-small-cell lung cancer
Manolo D'Arcangelo1, Armida D'Incecco, Federico Cappuzzo
1University of Colorado Cancer Center, Anschutz Medical Campus, 12801 East 17th Avenue, Aurora, CO 80045, USA.
Future Oncology (London, England)
|May 8, 2013
Summary
Recent molecular biology insights reveal rare genetic mutations in non-small-cell lung cancer (NSCLC). This review analyzes the prognostic and predictive roles of these uncommon mutations, particularly in adenocarcinoma and squamous cell carcinoma.
Area of Science:
- Oncology
- Molecular Biology
- Genetics
Background:
- Molecular biology advancements have reshaped non-small-cell lung cancer (NSCLC) therapeutics.
- Activating mutations in the Epidermal Growth Factor Receptor (EGFR) were identified in 2004, leading to discoveries of other genetic aberrations.
- Common EGFR mutations (exon 19 deletion, exon 21 substitution) occur frequently in NSCLC, predominantly in adenocarcinoma.
Purpose of the Study:
- To review and analyze the prognostic and predictive significance of rare genetic mutations in NSCLC.
- To explore mutations beyond common EGFR alterations in both adenocarcinoma and squamous cell carcinoma subtypes.
Main Methods:
- Literature review of recent studies on molecular biology and NSCLC.
- Analysis of genetic aberrations identified in NSCLC, focusing on rare mutations.
- Categorization of mutations based on NSCLC histology (adenocarcinoma vs. squamous cell carcinoma).
Main Results:
- Adenocarcinoma exhibits rare mutations in EGFR, ALK, ROS1, RET, HER2, and BRAF.
- Squamous cell carcinoma is characterized by TP53 as the most frequent mutation, alongside rarer mutations in PI3KCA, PTEN, DDR2, and FGFR.
- The study highlights a growing list of actionable genetic targets in NSCLC.
Conclusions:
- Rare mutations in NSCLC, including those in EGFR, ALK, ROS1, and others, hold significant prognostic and predictive potential.
- Understanding these rare genetic alterations is crucial for advancing personalized medicine in NSCLC treatment.
- Further research is warranted to fully elucidate the clinical impact of these uncommon mutations.
Related Concept Videos
02:21Cancers 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...
02:21Cancers 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...
02:39lncRNA - Long Non-coding RNAs
In humans, more than 80% of the genome gets transcribed. However, only around 2% of the genome codes for proteins. The remaining part produces non-coding RNAs which includes ribosomal RNAs, transfer RNAs, telomerase RNAs, and regulatory RNAs, among other types. A large number of regulatory non-coding RNAs have been classified into two groups depending upon their length – small non-coding RNAs, such as microRNA, which are less than 200 nucleotides in length, and long non-coding RNA (lncRNA)...
02:38The Ras Gene
The Ras-gene-encoded proteins are regulators of signaling pathways controlling cell proliferation, differentiation, or cell survival. The Ras-gene family in humans constitutes three primary members—the HRas, NRas, and KRas. These genes code for four functionally distinct yet closely related proteins—the HRas, NRas, KRas4A, and KRas4B. The involvement of mutant Ras genes in human cancer was first discovered in 1982 and is among the most common causes of human tumorigenesis.
Ras is a superfamily...
Ras is a superfamily...
03:18Non-LTR Retrotransposons
As the name suggests, non-LTR retrotransposons lack the long terminal repeats characteristic of the LTR retrotransposons. Additionally, both LTR and non-LTR retrotransposons use distinct mechanisms of mobilization. Non-LTR retrotransposons are further divided into two classes - Long interspersed nuclear elements (LINEs) and short interspersed nuclear elements (SINEs), both of which occur abundantly in most mammals, including humans. Some of the active non-LTR retrotransposons in humans are L1...
01:33Cancer-Critical Genes I: Proto-oncogenes
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...