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

rearrangement is a validated therapeutic driver gene in non-small cell lung cancer (NSCLC) and represents a small subset (1-2%) of NSCLC. A total of 17 different fusion partner genes of duanyu16701 in NSCLC have been reported. The multi-targeted tyrosine kinase inhibitor (TKI) crizotinib has demonstrated remarkable efficacy in NSCLC. Consequently, duanyu16701 detection assays include fluorescence in situ hybridization, immunohistochemistry, and real-time PCR. Next-generation sequencing (NGS) assay covers a range of fusion genes and approaches to discover novel receptor-kinase rearrangements in lung cancer. A 63-year-old male smoker with stage IV NSCLC (TxNxM1) was detected with a novel duanyu16701 fusion. Histological examination of the tumor showed lung adenocarcinoma. NGS analysis of the hydrothorax cellblocks revealed a novel rearrangement. This novel CEP72-duanyu16701 fusion variant is generated by the fusion of exons 1-11 of CEP72 on chromosome 5p15 to exons 23-43 of duanyu16701 on chromosome 6q22. The predicted CEP72-duanyu16701 protein product contains 1202 amino acids comprising the N-terminal amino acids 594-647 of CEP72 and C-terminal amino acid 1-1148 of CEP72-duanyu16701 is a novel duanyu16701 fusion variant in NSCLC discovered by NGS and could be included in duanyu16701 detection assay, such as reverse transcription PCR. Pleural effusion samples show good diagnostic performance in clinical practice.

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