The PML gene, also known as the promyelocytic leukemia gene, provides instructions for making a protein that plays a role in various cellular processes, including apoptosis (programmed cell death), tumor suppression, and antiviral defense. The RARA gene, also known as the retinoic acid receptor alpha gene, provides instructions for making a protein that is part of a family of proteins called nuclear receptors. These receptors are involved in signaling pathways that regulate various biological processes, including cell growth, differentiation, and apoptosis (programmed cell death).

PML-RARA detection refers to the identification of a specific genetic fusion between the PML (promyelocytic leukemia) gene and the RARA (retinoic acid receptor alpha) gene. This fusion is a characteristic genetic abnormality associated with acute promyelocytic leukemia (APL), a subtype of acute myeloid leukemia (AML).

Detecting the PML-RARA fusion gene confirms the diagnosis of APL. APL is highly responsive to a medication called all-trans retinoic acid (ATRA) and, in some cases, arsenic trioxide. These medications are specifically effective against APL because they target the abnormal PML-RARA protein. After treatment, this gene is important for the monitoring for minimal residual disease (MRD), as detection of PML-RARA transcripts in the blood or bone marrow might indicate the presence of residual disease.