title: Complex chromosome 8;21 translocation with associated hyperdiploidy in acute myeloid leukemia (FAB-M2).
abstract: We present a case of acute myeloblastic leukemia (AML-M2) with a complex t(8;21) translocation and additional acquired chromosomes yielding a hyperdiploid karyotype. AML1/ETO transcript was observed by reverse transcription-polymerase chain reaction. Fluorescence in situ hybridization (FISH), spectral karyotyping (SKY), and comparative genomic hybridization (CGH) were performed to further identify the chromosomes observed by G banding. The patient was treated according to our current protocol for AML. He remains in complete remission +11 months from diagnosis. Further follow-up of this patient and the analysis of a larger number of children are needed to define whether the gains of the specific extra chromosomes modify the good prognosis that t(8;21) confers to this subgroup of AML.
authors.affiliation: Cytogenetics Laboratory, Department of Genetics, Hospital de Pediatria SAMIC "Prof. Dr. J P Garrahan", Buenos Aires, Argentina.
authors.forename: María del Pilar
authors.initials: Mdel P
authors.lastname: Corral
authors.forename: Olaya
authors.initials: O
authors.lastname: Villa
authors.forename: Elizabeth M
authors.initials: EM
authors.lastname: Alfaro
authors.forename: Cristina N
authors.initials: CN
authors.lastname: Alonso
authors.forename: Cristina
authors.initials: C
authors.lastname: Baro
authors.forename: Maria S
authors.initials: MS
authors.lastname: Felice
authors.forename: Jorge
authors.initials: J
authors.lastname: Rossi
authors.forename: Francesc
authors.initials: F
authors.lastname: Solé
authors.forename: Marta S
authors.initials: MS
authors.lastname: Gallego
mesh_terms: D000782:Aneuploidy; D000971:Antineoplastic Combined Chemotherapy Protocols / Q000008:administration & dosage / Q000627:therapeutic use; D002648:Child; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics / Q000648:ultrastructure*; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics / Q000648:ultrastructure*; D050676:Core Binding Factor Alpha 2 Subunit / Q000235:genetics*; D003561:Cytarabine / Q000008:administration & dosage; D020732:Cytogenetic Analysis; D005047:Etoposide / Q000008:administration & dosage; D006801:Humans; D015255:Idarubicin / Q000008:administration & dosage; D015470:Leukemia, Myeloid, Acute / Q000188:drug therapy / Q000235:genetics*; D008297:Male; D009693:Nucleic Acid Hybridization; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D016133:Polymerase Chain Reaction; D000075142:RUNX1 Translocation Partner 1 Protein; D014178:Translocation, Genetic
chemical_list: C107844:AML1-ETO fusion protein, human; D050676:Core Binding Factor Alpha 2 Subunit; D015514:Oncogene Proteins, Fusion; D000075142:RUNX1 Translocation Partner 1 Protein; D003561:Cytarabine; D005047:Etoposide; D015255:Idarubicin