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This study investigated the use of next-generation sequencing (NGS) as an alternative to karyotyping, FISH, RT-PCR and microarrays, which have traditionally been used as routine techniques to detect fusion genes in acute myeloid leukemia (AML) research. Recent improvements to NGS-based methods allow for the simultaneous discovery of novel alterations alongside known mutations and structural alterations in genomic research.

In the study we tested the ability of the SureSeq™ Myeloid Fusion Complete NGS Workflow Solution V2 to detect known fusions in AML research samples, with the results showing the panel delivered:

  • 100% concordance with qPCR and FISH for all AML samples tested
  • Detection of MECOM overexpression, which in turn, allows for the detection of translocation events such as inv(3)(q21q26); t(3;3)(q21;q26) that do not form fusion genes but rather result in MECOM overexpression
  • Detection of single-exon resolution of breakpoints, multiple breakpoints as well as reciprocal fusion transcripts that would have remained undetected with FISH
  • Partner-agnostic fusion detection, which is especially important for promiscuous driver genes like KMT2A that have multiple fusion partners

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