title: A t(17;20)(q21;q12) masking a variant t(15;17)(q22;q21) in a patient with acute promyelocytic leukemia.
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).
authors.affiliation: Department of Hematology, Hospital Universitario La Fe, Avenida Campanar, 21, 46009 Valencia, Spain.
authors.forename: Zaida
authors.initials: Z
authors.lastname: García-Casado
authors.forename: José
authors.initials: J
authors.lastname: Cervera
authors.forename: Ana
authors.initials: A
authors.lastname: Valencia
authors.forename: Juan C
authors.initials: JC
authors.lastname: Pajuelo
authors.forename: Armando V
authors.initials: AV
authors.lastname: Mena-Duran
authors.forename: Eva
authors.initials: E
authors.lastname: Barragán
authors.forename: Pascual
authors.initials: P
authors.lastname: Bolufer
authors.forename: Miguel A
authors.initials: MA
authors.lastname: Sanz
mesh_terms: D000328:Adult; D018943:Anthracyclines / Q000627:therapeutic use; D020223:Chromosome Painting; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D002890:Chromosomes, Human, Pair 20 / Q000235:genetics*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D015473:Leukemia, Promyelocytic, Acute / Q000188:drug therapy / Q000235:genetics*; D009363:Neoplasm Proteins / Q000235:genetics; D015514:Oncogene Proteins, Fusion / Q000235:genetics; D012074:Remission Induction; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014178:Translocation, Genetic / Q000235:genetics*; D014212:Tretinoin / Q000627:therapeutic use
chemical_list: D018943:Anthracyclines; D009363:Neoplasm Proteins; D015514:Oncogene Proteins, Fusion; C093476:promyelocytic leukemia-retinoic acid receptor alpha fusion oncoprotein; D014212:Tretinoin