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Updated: Aug 6, 2026
Detection and Monitoring of Tumor Associated Circulating DNA in Patient Biofluids
Published on: June 8, 2019
Rapid Molecular Diagnostics Enables Individualized Frontline Treatment of CBFA2T3::GLIS2-Rearranged Acute Myeloid
Joanne C Alfred1, Julie K Geyer2, Alexa Rodriguez1
1Department of Pediatrics, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.
Abstract:
In this paper, we discuss how Nanopore whole genome sequencing (WGS) was utilized for rapid genomic identification of CBFA2T3::GLIS2-rearranged acute myeloid leukemia (AML) for two pediatric patients. Patients with CBFA2T3::GLIS2 AML have a 27% 5-year event-free survival. Prior case reports demonstrated that recurrent CBFA2T3::GLIS2 AML has a favorable treatment response to azacitidine, venetoclax, and gemtuzumab. Nanopore WGS enabled early recognition of the CBFA2T3::GLIS2 rearrangement, providing the opportunity to choose alternative therapies upfront with azacitidine, venetoclax, and gemtuzumab. We discuss our patients' status and the implications of a rapid molecular diagnostic method like Nanopore WGS. Trial Registration: Clinicaltrials.gov identifier: NCT06609928.
