Detection of leukemia gene fusions by targeted RNA-sequencing in routine diagnostics.

ABSTRACT:

Background

We have evaluated an NGS-based method to detect recurrent gene fusions of diagnostic and prognostic importance in hematological malignancies. Our goal was to achieve a highly specific assay with a simple workflow, short turnaround time and low cost.

Method

The assay uses a commercially available anchored multiplex PCR panel for target enrichment and library preparation, followed by sequencing using a MiSeq instrument. The panel includes all recurrent gene fusions in AML and ALL and is designed to detect gene-specific fusions without prior knowledge of the partner sequence or specific break points. Diagnostic RNA samples from 27 cases with hematological malignancies encompassing 23 different transcript variants were analyzed. In addition, 12 cases from a validation

SUBMITTER: Engvall M 

PROVIDER: S-EPMC7388219 | biostudies-literature | 2020 Jul

REPOSITORIES: biostudies-literature