91. Reducing diagnostic FISH turn-around-time: A rapid pipeline for BCR::ABL1 and PML::RARA suspected leukemias

Aly Abdelkareem

Angela Lager

Angela Lager, PhD, FACMG, is a clinical laboratory geneticist at the University of Chicago. Dr. Lager completed her doctorate at Case Western Reserve University in Genetics and Genome Sciences, followed by fellowships in clinical cytogenetics and molecular genetics at the University of Wisconsin-Madison (#OnWisconsin). In 2018 Dr. Lager joined the Department of Pathology and Department of Medicine at the University of Chicago as an Assistant Professor. Her research and clinical interests are focused on using cytogenetic and molecular genetic testing modalities to uncover and define the cytogenetic and molecular genetic landscape of cancer as it relates to diagnosis, prognosis, therapy response, and disease progression. Within the Cancer Genomics Consortium Dr. Lager has served as the Chair of the Communications committee since October 2021. 


Angela Lager, Nifang Niu, Rachel Sears

University of Chicago, Chicago, IL, USA

Successful long-term outcome of patients with BCR::ABL1 positive chronic myeloid leukemia (CML) and PML::RARA positive acute promyelocytic leukemia (APL) is critically dependent on rapid cytogenetic and molecular studies. Fluorescence in situ hybridization (FISH) serves as a standard-of-care diagnostic assay in the workup of suspected BCR::ABL1 and PML::RARA positive leukemias. Nonetheless, turn-around-time for FISH results can be upwards of days, delaying highly-effective personalized treatments.

To reduce FISH turn-around-time for patients with a suspected BCR::ABL1 or PML::RARA positive leukemia, our cytogenetics laboratory developed a rapid specimen processing algorithm to consistently return diagnostic BCR::ABL1 and PML::RARA FISH results within 24-hours from sample receipt. Our algorithm, a time-dependent decision matrix, leverages modified sample culturing, harvesting, and FISH hybridization protocols to return diagnostic BCR::ABL1 and PML::RARA FISH results as quickly as 6 hours from sample receipt. This pipeline enables accelerated treatment for patients with BCR::ABL1 and PML::RARA positive leukemias.