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Updated: May 11, 2026

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
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
PubMed

Insights

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.

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