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rectal neoplasms; neoadjuvant therapy; RNA sequencing; mass spectrometry.

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.

CHUNLIAN ZHOU¹ MIN LI^{1 2} ZHIWEI GUO¹ KUN LI¹ XIANGMING ZHAI¹ YINGCHAO XIE¹ XUEXI YANG¹ YINGSONG WU¹ WEIWEI XIAO² WEIWEN XU¹

1. Institute of Antibody Engineering, School of Laboratory Medicine and Biotechnology, Southern Medical University, Guangzhou 510515, People’s Republic of China
2. Department of Radiation Oncology, Sun Yat-sen University Cancer Center, Guangzhou 510060, People’s Republic of China

Published

17 October 2020

Manuscript received

12 October 2019

Manuscript revised

9 June 2020

Accepted

12 June 2020