External Validation of ALK and ROS1 Fusions Detected Using an Oncomine Comprehensive Assay

Anticancer Res. 2021 Sep;41(9):4609-4617. doi: 10.21873/anticanres.15274.

Abstract

Background/aim: This study aimed to assess the yield of an Oncomine comprehensive assay v3 (OCAv3)-based next-generation sequencing (NGS) analysis for detecting anaplastic lymphoma kinase (ALK) and c-ros oncogene 1 (ROS1) fusions in non-small cell lung cancer (NSCLC).

Patients and methods: NGS data from 85 NSCLC cases were reviewed. ALK and ROS1 fusion status was compared to conventional tests.

Results: ALK or ROS1 fusion reads were detected in 17 NSCLC cases. Results in 10 NSCLC cases showed concordance with conventional tests, high-count fusion reads, a lack of mutually exclusive mutations of ALK or ROS1, and frequent signet-ring cell component. Seven NSCLC cases showing discordant results exhibited low to intermediate fusion read counts and mutations mutually exclusive from ALK or ROS1.

Conclusion: Cases showing high-count fusion reads in OCAv3-based NGS have a strong possibility of carrying ALK or ROS1 fusion. Cases with low- to intermediate-count fusion reads should be interpreted with caution and may require additional confirmative tests.

Keywords: ALK; Oncomine Comprehensive Assay; ROS1; next-generation sequencing.

Publication types

  • Comparative Study

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Anaplastic Lymphoma Kinase / genetics*
  • Carcinoma, Non-Small-Cell Lung / genetics*
  • Cytogenetic Analysis
  • Female
  • High-Throughput Nucleotide Sequencing
  • Humans
  • In Situ Hybridization, Fluorescence
  • Lung Neoplasms / genetics*
  • Male
  • Middle Aged
  • Mutation
  • Oncogene Proteins, Fusion / genetics*
  • Protein-Tyrosine Kinases / genetics*
  • Proto-Oncogene Proteins / genetics*
  • Reverse Transcriptase Polymerase Chain Reaction
  • Sequence Analysis, RNA / methods*

Substances

  • Oncogene Proteins, Fusion
  • Proto-Oncogene Proteins
  • ALK protein, human
  • Anaplastic Lymphoma Kinase
  • Protein-Tyrosine Kinases
  • ROS1 protein, human