Clinical application of targeted next-generation sequencing for colorectal cancer patients: a multicentric Belgian

Nicky D'Haene1, Quitterie Fontanges1, Nancy De Nève1

  • 1Department of Pathology, Erasme Hospital, Université Libre de Bruxelles, Brussels, Belgium.

Oncotarget
|May 15, 2018
PubMed

Insights

Next-generation sequencing (NGS) reliably identified actionable mutations in 64% of metastatic colorectal cancer (CRC) patients, guiding therapy decisions. This validated molecular screening test offers crucial information with an 8-day turnaround, improving patient care.

Area of Science:

  • Oncology
  • Genomics
  • Molecular Diagnostics

Background:

  • International guidelines mandate RAS (KRAS and NRAS) mutational status for anti-EGFR therapy in metastatic colorectal cancer (CRC).
  • The growing understanding of molecular biomarkers necessitates validated, sensitive, and accessible screening tests for clinical decision-making.
  • Next-generation sequencing (NGS) is increasingly adopted for comprehensive genomic profiling.

Purpose of the Study:

  • To evaluate the clinical utility of targeted NGS using the Ion Torrent AmpliSeq colon/lung cancer panel over two years.
  • To assess the reliability and turnaround time of NGS for guiding therapeutic decisions in metastatic colorectal cancer (CRC) patients.
  • To identify actionable mutations and amplifications in a large cohort of CRC tissues.

Main Methods:

  • Prospective analysis of 741 formalin-fixed paraffin-embedded CRC tissues from 14 Belgian institutions.
  • Targeted NGS using the Ion Torrent AmpliSeq colon/lung cancer panel (22 cancer-related genes).
  • BELAC ISO 15189 accredited method for molecular screening.

Main Results:

  • Successful sequencing achieved in 98% of samples; 89% harbored at least one mutation.
  • KRAS, BRAF, and NRAS mutations detected in 46%, 11%, and 4% of samples, respectively.
  • Actionable mutations/amplifications identified in 64% of samples, including PIK3CA (14%) and ERBB2 (0.4% amplification). Median turnaround time was 8 calendar days.

Conclusions:

  • The AmpliSeq colon/lung cancer panel is effective for routine clinical practice in metastatic colorectal cancer (CRC).
  • NGS provides reliable, clinically relevant information for therapeutic decision-making.
  • The test demonstrated a short turnaround time, facilitating timely patient management.

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