Celeste C. Eno
Celeste C. Eno, Ph.D., FACMG is an Assistant Professor and Associate Director of Cytogenetics and Molecular Laboratories at Cedars-Sinai Medical Center. Her clinical role includes both cytogenetics and molecular genetics, which has underscored the value of integrative genetics. She has a particular interest in hematopoietic and lymphoid malignancies. She is involved in the technical and development of new tests and designing new NGS panels. Her teaching roles include being the Genetics coordinator for the CS Pathology residents and fellows.
Abstract
Celeste Eno, Wenjuan Zhang, Eric Vail
Cedars-Sinai Medical Center, Los Angeles, CA, USA
Rapid molecular results for FLT3, IDH1/2 and NPM1 are necessary for treatment decisions of newly diagnosed acute leukemia patients. However, as treatment protocols and clinical trials request more gene variants with a faster turnaround time, single gene STAT testing using polymerase chain reaction-based testing becomes more cumbersome for the molecular diagnostic laboratory. Therefore, a rapid next generation sequencing panel for acute leukemias is necessary for laboratory operations and, more importantly, clinical utility. Cedars-Sinai molecular pathology laboratory validated the automated Oncomine? Myeloid Assay GX v2 panel using the Ion Torrent? Genexus? Integrated Sequencer (v.6.6) for a 24-hour turnaround time from DNA and RNA purification to variant reporting. We compared the results from Oncomine? Myeloid Assay GX v2 panel to Archer® VariantPlex® Myeloid panel on Illumina-based platforms. The differences between the two systems include technician intervention, turnaround time, variant accuracy, and the usability of the software package. While Archer® VariantPlex® Myeloid panel demonstrates unrivaled accuracy and reliability, the ThermoFisher Myeloid Assay GX v2 using the Genexus (IonTorrent sequencing) offers quick results and fusion detection. Therefore, we have chosen to implement both systems as standard clinical diagnostics for new acute leukemia patients.