Multiplexed Digital Detection of B-ALL Leukemia Fusion Transcripts using the NanoString nCounter System

Abstract Chromosomal rearrangements resulting in fusion transcripts have been reported in precursor B-cell acute lymphoblastic leukemia (B-ALL). Identification of fusion events is critical in the diagnosis of B-ALL. In this study, we used nanoString technology to design, validate, and evaluate a multiplex panel for detection of B-ALL fusion transcripts. Fifty-one B-ALL fusion transcripts reported in children in the literature were included in the design of the nanoString panel. Twenty-six fusion transcripts were validated using 64 positive control samples and 74 negative control samples with 100% sensitivity and 99% in comparison to Reverse Transcription-PCR. Our results support a potential role of nanoString as a robust and cost-effective technique that could be used in the detection of fusion transcripts and implemented in diagnostic algorithm of B-ALL.