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Detection of Targetable Alterations in Non-small Cell Lung Cancer using Next-generation Sequencing
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Somatic mutation analysis in melanoma using targeted next generation sequencing.

Allen P Miraflor1, Francine B de Abreu1, Jason D Peterson1

  • 1Department of Pathology and Laboratory Medicine, Dartmouth-Hitchcock Medical Center, Lebanon, NH 03756, United States.

Experimental and Molecular Pathology
|August 21, 2017
PubMed
Summary

This study shows a new genetic test for advanced melanoma. The next-generation sequencing assay identifies mutations like BRAF and NRAS, guiding personalized cancer therapy and predicting treatment response.

Keywords:
BRAMelanomaMutationNRASNext generation sequencing (NGS)Variant

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Area of Science:

  • Oncology
  • Molecular Biology
  • Genetics

Background:

  • Advanced stage malignant melanoma has poor therapeutic response and low survival rates.
  • Understanding molecular abnormalities is key to developing new melanoma treatments.
  • Personalized medicine approaches require detailed genotypic information.

Purpose of the Study:

  • To demonstrate the feasibility of a next-generation sequencing (NGS) assay for assessing melanoma genotypes.
  • To identify genetic variants influencing therapeutic selection and response in melanoma patients.
  • To evaluate the utility of NGS in detecting actionable mutations and resistance mechanisms.

Main Methods:

  • DNA extraction from formalin-fixed paraffin-embedded (FFPE) melanoma specimens.
  • Development and application of a multiplexed next-generation sequencing (NGS) assay targeting 50 cancer gene hotspots.
  • Sequencing of 121 melanoma cases to identify gene variants.

Main Results:

  • BRAF mutations were detected in 40% (48/121) and NRAS mutations in 20% (24/121) of cases.
  • Other gene variants were identified in 20 BRAF-mutated and 57 BRAF wild-type cases.
  • Four patients exhibited distinct mutations in metastatic sites compared to primary lesions or other metastases, suggesting clonal evolution.

Conclusions:

  • The developed NGS assay is feasible for comprehensive genotypic profiling of melanoma.
  • Identification of concurrent gene variants offers potential additional therapeutic targets.
  • Detected genetic heterogeneity may explain mechanisms of secondary therapeutic resistance in melanoma.