<scp>PML</scp>‐<scp>RARA</scp> fusion resulting from a cryptic insertion of <i><scp>RARA</scp></i> gene into <i><scp>PML</scp></i> gene without the reciprocal <scp>RARA</scp>‐<scp>PML</scp> fusion: clinical, cytogenetic, and molecular characterization and prognosis

Abstract

We describe a case of acute promyelocytic leukemia in a 61-yr-old woman with a cryptic insertion of RARA gene into PML gene. Using a combination of cytogenetic and molecular methods, we confirmed the insertion and presence of the PML-RARA transcript and lack of the reciprocal RARA-PML transcript. Although such cryptic insertions leading to a PML-RARA fusion have been previously reported, we show that such variant insertions, based on our case, appear to have the same prognostic significance as the classical t(15;17)(q22;q21).