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AACR 2023 Poster 2053

Structural Variants Detected by Optical Genome Mapping in Acute Lymphoblastic Leukemia Patient-Derived Xenograft Model

Yueying Wang, Mengting Qin, Jinping Liu, Weijie Chen, Wubin Qian, Xiaobo Chen, Jia Xue and Sheng Guo
Crown Bioscience, 218 Xinghu Street, Suzhou, Jiangsu, 215000, China

This poster provides information about detecting rare structural variants (SVs) and gene fusions in acute lymphoblastic leukemia (ALL) patients. The study focuses on investigating SVs in 22 patient-derived xenografts (PDX) of ALL, with a particular emphasis on identifying rare SVs and chromosomal aberrations detected by optical genome mapping (OGM).

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  • The detection of novel and rare SVs in high-risk ALL patients.

  • The impact of BCR-ABL1 gene fusion and JAK2 alterations on hematological malignancies, and how they can be detected using OGM, RNA-seq, and whole genome sequencing (WGS).

  • The 44 rare SVs, 12% of previously unreported gene fusions, and novel fusion partners for JAK2, including PCM1-JAK2 and SCMH1-JAK2, discovered in this study.

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