CEP72-ROS1: A novel ROS1 oncogenic fusion variant in lung adenocarcinoma identified by next-generation sequencing

You-Cai Zhu1, Yue-Fen Zhou2, Wen-Xian Wang3

  • 1Chest Disease Diagnosis and Treatment Center, Zhejiang Rongjun Hospital, Jiaxing, China.

Thoracic Cancer
|March 9, 2018
PubMed

Insights

A novel CEP72-ROS1 fusion was discovered in non-small cell lung cancer (NSCLC) using next-generation sequencing. This finding expands the known ROS1 rearrangements and may improve diagnostic assays for NSCLC patients.

Area of Science:

  • Oncology
  • Molecular Biology
  • Genetics

Background:

  • ROS1 rearrangements are key drivers in a small subset of non-small cell lung cancer (NSCLC).
  • Crizotinib is an effective tyrosine kinase inhibitor for ROS1-rearranged NSCLC.
  • Current detection methods include FISH, IHC, and real-time PCR, with next-generation sequencing (NGS) offering broader gene coverage.

Observation:

  • A 63-year-old male smoker with stage IV NSCLC presented with a novel ROS1 fusion.
  • Histological examination confirmed lung adenocarcinoma.
  • NGS analysis of hydrothorax cellblocks identified a previously unreported CEP72-ROS1 rearrangement.

Findings:

  • The novel CEP72-ROS1 fusion involves exons 1-11 of CEP72 and exons 23-43 of ROS1.
  • The predicted protein product comprises specific N-terminal and C-terminal amino acid sequences from CEP72 and ROS1, respectively.
  • This fusion variant was identified using NGS in pleural effusion samples.

Implications:

  • The discovery of the CEP72-ROS1 fusion expands the landscape of known ROS1 alterations in NSCLC.
  • This novel variant could be incorporated into existing ROS1 detection assays, such as reverse transcription PCR.
  • Utilizing pleural effusion samples demonstrates diagnostic utility in clinical practice for identifying such fusions.

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