Gene rearrangements, such as anaplastic lymphoma kinase (ALK), c-ros oncogene 1 receptor tyrosine kinase (ROS1), rearrangedduring transfection (RET) and neurotrophic receptor tyrosine kinase 1 (NTRK1), identified in cancer have been indicated to be robusttherapeutic targets in lung carcinomas. However, a few studies have focussed on locally advanced rectal cancer (LARC). The discovery ofnovel gene fusions is also valuable for LARC research. We used mass spectrometry-based assays and RNA sequencing to detect bothknown ALK, ROS1, RET and NTRK1 rearrangements and novel gene fusions in LARC patients. FusionMap was also used to find genefusions. None of the ALK, ROS1, RET or NTRK1 gene fusions were detected by mass spectrometry-based assays or RNA sequencing. Threefusion candidates, integrin subunit beta 7 (ITGB7)-ROS1, lamin A/C (LMNA)-NTRK1 and Golgi-associated PDZ and coiled-coil motifcontaining (GOPC)-keratin 8 (KRT8), showed relatively high junction-spanning reads by the FusionMap algorithm, but did not passvalidation. These results suggest that no ALK, ROS1 or RET rearrangements were found in LARC.
Volume 101, 2022
Continuous Article Publishing mode
Click here for Editorial Note on CAP Mode