Partial Anchored Capture and Long-Read Sequencing (PACLseq) Enable An Innovative Diagnostic Method for Ph-like ALL

Fusion genes play a crucial role in the development of Philadelphia chromosome-like acute lymphoblastic leukemia (Ph-like ALL). Timely and accurate diagnosis of Ph-like ALL is essential for guiding treatment decisions and selecting targeted therapies. However, current diagnostic methods for Ph-like leukemia are complex and lack standardization, resulting in a lengthy diagnostic process. In this study, we present a new method called Partial Anchored Capture and Long-Read Sequencing (PACLseq) that utilizes nanopore sequencing technology. PACLseq enables the detection of specific fusion genes using as little as 10ng of RNA and provides results within 3 days. We conducted extensive testing using BCR-ABL1 standards and 45 clinical samples to validate the efficacy of PACLseq. Our findings highlight the reliability and versatility of PACLseq as a convenient method for the clinical diagnosis of Ph-like ALL. By offering rapid and accurate fusion gene detection, PACLseq has the potential to significantly improve diagnostic efficiency, facilitate timely treatment decisions, and enhance patient outcomes in the management of Ph-like ALL.