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- W4309990790 abstract "Newly discovered genetic drivers in B-lymphoblastic leukemia (B-ALL) frequently remain undetected by standard karyotype and FISH analyses. At our institution, comprehensive evaluation by karyotyping, FISH, chromosomal microarray and a custom sequencing panel (OncoKids®), identifies a primary driver in 85% of B-ALL cases. In this study we utilized a novel capture-based transcriptome sequencing (RNA-Seq) method and optical genome mapping (OGM) to detect driver fusions in the remaining 15% of B-ALL subtypes. OGM and RNASeq were performed on 19 and 53 leukemia cases, respectively, with undefined genetic drivers. Subtype-defining abnormalities were detected by RNAseq in 16/53 cases (30%). Twelve of the 16 demonstrated previously described genetic drivers, while 4 cases showed novel fusions at the time of testing. These included an RBM26::JAK2 fusion identified in a 1-year old with standard risk (SR) B-ALL, a STRBP::JAK2 fusion in a 23-year old with high-risk B-ALL; a PAX5::HIPK3 fusion in a 5-year old with SR B-ALL, and an ETV6::MFN2 fusion in a 2-year old with SR B-ALL. OGM demonstrated that the RBM26::JAK2, PAX5::HIPK3 and ETV6::MFN2 fusions originated from translocations, and the STRBP::JAK2 fusion from an inversion. Expression profiling showed a Philadelphia-like signature in the RBM26::JAK2 and STRBP::JAK2 cases, a PAX5Alt signature in the PAX5::HIPK3 case and an ETV6::RUNX1-like signature in the ETV6::MFN2 case. This study demonstrates clinical utility and discovery potential of RNAseq and OGM in B-ALL classification. Considering the genetic heterogeneity and high discovery rate of novel drivers, non-targeted genome and transcriptome interrogation may be superior to panel testing for clinical B-ALL evaluation." @default.
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- W4309990790 date "2022-11-01" @default.
- W4309990790 modified "2023-09-27" @default.
- W4309990790 title "110. Discovery and characterization of novel fusions in Pediatric B-Lymphoblastic Leukemia (B-ALL)" @default.
- W4309990790 doi "https://doi.org/10.1016/j.cancergen.2022.10.113" @default.
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