Identification of rare PML::RARA variant missed by traditional molecular testing
December 2025—A 21-year-old male with a history of acute promyelocytic leukemia (APL) presented with symptoms suggestive of relapse. While standard tests like qRT-PCR and amplicon-based sequencing failed to detect the PML::RARA fusion, AMP NGS revealed an atypical bcr2 transcript with a novel breakpoint.