TPD52L1-ROS1, a new ROS1 fusion variant in lung adenosquamous cell carcinoma identified by comprehensive genomic profiling.

作者: Viola Weijia Zhu , Daya Upadhyay , Alexa B. Schrock , Kyle Gowen , Siraj M. Ali

DOI: 10.1016/J.LUNGCAN.2016.04.013

关键词:

摘要: Crizotinib was approved for the treatment of ROS1-rearranged non-small cell lung cancer (NSCLC) patients in US on 11 March, 2016. Interestingly no one companion diagnostic test (CDx) has been simultaneously with this approval crizotinib. Hence, an ideal and adequate CDx will have to be able identify ROS1 fusions without knowledge fusion partners ROS1, as date there are 13 reported NSCLC. Here we report a novel TPD52L1-ROS1 variant This is generated by exons 1-3 TPD52L1 chromosome 6q22-23 33-43 6q22, likely from intra-chromosomal deletion subsequent event similar generation EML4-ALK. The predicted protein product contains 655 amino acids comprising N-terminal 1-95 C-terminal 1789-2348 ROS1. In summary, NSCLC identified comprehensive genomic profiling should included any detecting assays that depend identifying corresponding partners, such reverse transcriptase-polymerase chain reaction (RT-PCR).

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