RNA sequencing-based measurement of fusion-transcript for minimal residual disease (MRD) monitoring in core-binding factor acute myeloid leukemia (CBF AML)

Recent studies utilizing NGS demonstrated that residual allelic burden at complete remission (CR) is associated with worse overall survival (OS) and relapse incidence in AML. -based methods such as quantitative PCR (qPCR) based disease monitoring is current practice in CBF-AML. However, qPCR requires standardization and the result for the same sample may vary depending on several factors. Also, other known prognostic factors such as cKIT mutation requires an additional test. As RNA-seq can detect gene rearrangement as well as somatic mutations, we hypothesized that RNA-seq on samples taken at diagnosis and at remission can measure these genetic events simultaneously and can be utilized for minimal residual disease (MRD) monitoring in CBF-AML.