Zhongqiu Xie, Pawel L Janczyk, Xinrui Shi, Qiong Wang, Sandeep Singh, Robert Cornelison, Jingjing Xu, James W Mandell, Frederic G Barr, Hui Li
Rhabdomyosarcoma (RMS) is one of the most common pediatric soft-tissue cancer. Previously, we discovered a gene fusion, MARS-AVIL formed by chromosomal inversion in RMS. Suspecting that forming a fusion with a housekeeping gene may be one of the mechanisms to dysregulate an oncogene, we investigated AVIL expression and its role in RMS. We first showed that MARS-AVIL translates into an in-frame fusion protein, which is critical for RMS cell tumorigenesis. Besides forming a gene fusion with the housekeeping gene, MARS , the AVIL locus is often amplified, and its RNA and protein expression are overexpressed in the majority of RMSs...
June 14, 2022: Proceedings of the National Academy of Sciences of the United States of America