Targeted RNA sequencing suitable for leukemia detection in clinical routine


A study performed at Clinical Genomics Uppsala (CGU) using an NGS-based method for gene fusion detection in hematological malignancies has been published in BMC Medical Genomics.  

The goal of the study was to achieve an assay for the detection of clinically relevant gene fusions that would be suitable for implementation in a clinical setting. The article describes a method using an anchored multiplex PCR panel (Archer Dx) for target enrichment and library preparation followed by sequencing on a MiSeq instrument (Illumina) for gene-specific fusion detection.

In the study, the technique could detect recurrent gene fusions in acute myeloid leukemia (AML) and acute lymphoblastic leukemia (ALL) using a hematological gene panel of 20 genes. The simple workflow used resulted in the successful detection of all known fusion transcripts with a high degree of confidence, with short turnaround time and relatively low cost; factors which are essential in a diagnostic workflow. The assay could even detect more complex fusions with cryptic rearrangements or rare fusion partners, which would traditionally be missed using conventional methods. The turnaround time of less than 5 days means that the method is suitable to implement in a clinical setting.

From CGU, clinical molecular geneticists Marie Engvall and Lucia Cavelier and biomedical analyst Britt-Inger Jonsson contributed to the study.

You can read the article here.

Last modified: 2024-02-23