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).
Keywords: acute promyelocytic leukemia; cryptic PML-RARA; fluorescence in situ hybridization; karyotype; reverse transcriptase-polymerase chain reaction.
© 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.