Optical Genome Mapping for Comprehensive Assessment of Chromosomal Aberrations and Discovery of New Fusion Genes in Pediatric B-Acute Lymphoblastic Leukemia
Huixia Gao, Hanli Xu, Chanjuan Wang, Lei Cui, Xiao‐Tong Huang, Weijing Li, Zhixia Yue, Shuo Tian, Xiaoxi Zhao, Tianlin Xue, Tianyu Xing, Jun Li, Ying Wang, Ruidong Zhang, Zhigang Li, Tianyou Wang
Abstract
PURPOSE: To assess the potential added value of Optical Genomic Mapping (OGM) for identifying chromosomal aberrations. METHODS: We utilized Optical Genomic Mapping (OGM) to determine chromosomal aberrations in 46 children with B-cell Acute lymphoblastic leukemia ALL (B-ALL) and compared the results of OGM with conventional technologies. Partial detection results were verified by WGS and PCR. RESULTS: ) were identified by OGM and verified by WGS and RT-PCR for the first time. OGM has a greater ability to detect complex chromosomal aberrations, refine complicated karyotypes, and identify more SVs. Several novel fusion genes and single-gene alterations, associated with definite or potential pathologic significance that had not been detected by traditional methods, were also identified. CONCLUSION: OGM addresses some of the limitations associated with conventional cytogenomic testing. This all-in-one process allows the detection of most major genomic risk markers in one test, which may have important meanings for the development of leukemia pathogenesis and targeted drugs.