Complex genetic structural aberrations revealed by optical genome mapping in a case of APL-like morphology.

We present a detailed cytogenomic analysis from a patient with suspected acute promyelocytic leukemia (APL), based on morphological and immunophenotypic characteristics. Initial testing with fluorescence in situ hybridization (FISH) and chromosome analysis was negative for the canonical PML::RARA and other RARA partners translocations. Polymerase chain reaction (PCR) did not detect PML::RARA transcripts.