Author/Authors :
Garcيa-Casado، نويسنده , , Zaida and Cervera، نويسنده , , Jose F. Valencia، نويسنده , , Ana and Pajuelo، نويسنده , , Juan C. and Mena-Duran، نويسنده , , Armando V. and Barragلn، نويسنده , , Eva and Bolufer، نويسنده , , Pascual and Sanz، نويسنده , , Miguel A.، نويسنده ,
Abstract :
Acute promyelocytic leukemia (APL) is genetically characterized by a reciprocal translocation between chromosomes 15 and 17, the t(15;17)(q22;q21), which results in the fusion gene PML/RARA. A small proportion of patients with APL have complex or simple variants of this translocation. We report the case of a 31-year-old woman with APL (FAB-M3 classical form) carrying an apparently balanced translocation t(17;20)(q21;q12) masking a t(15;17)(q22;q21) confirmed by fluorescence in situ hybridization (FISH) and molecular studies. The patient was treated with an all-trans-retinoic acid (ATRA) plus anthracycline-based protocol and achieved complete remission, with no recurrence to date. These results illustrate the usefulness of combining cytogenetics, FISH, and reverse transcription–polymerase chain reaction (RT-PCR) methods to evidence the PML/RARA fusion gene in cases with morphologic suspicion of APL with variant or cryptic t(15;17).
