title: Acute myeloid leukemia (FAB-M2) with a masked type of t(8;21) translocation revealed by spectral karyotyping.
abstract: We report a case of acute myeloid leukemia (AML), M2 subtype according to the French-American-British (FAB) classification, with extramedullary myeloblastoma of the uterus and a masked type of variant translocation of t(8;21)(q22;q22). A 45-year-old Japanese woman presented with metrorrhagia, and AML (M2) with uterine invasion was diagnosed. The patient received an allogeneic peripheral blood stem cell transplantation after remission, and her pelvis was irradiated locally. Cytogenetic study at first showed t(8;17)(q22;p13) by G-banding. Spectral karyotyping (SKY) analysis modified this interpretation to a 3-way translocation involving chromosomes 8,17, and 21 and identified a masked type of variant t(8;21)(q22;q22) translocation. Results of fluorescence in situ hybridization using the AML1/ETO probe, and of detection of the AML1/ETO fusion transcript by reverse transcriptase-polymerase chain reaction were consistent with the karyotyping result. SKY analysis is useful to compensate for the limitations of cytogenetic studies.
authors.affiliation: mygj1@lime.ocn.ne.jp
authors.forename: Jun-ichi
authors.initials: J
authors.lastname: Miyagi
authors.forename: Naoki
authors.initials: N
authors.lastname: Kakazu
authors.forename: Masato
authors.initials: M
authors.lastname: Masuda
authors.forename: Takashi
authors.initials: T
authors.lastname: Miyagi
authors.forename: Tamiko
authors.initials: T
authors.lastname: Toyohama
authors.forename: Tetsuro
authors.initials: T
authors.lastname: Nakazato
authors.forename: Takeaki
authors.initials: T
authors.lastname: Tomoyose
authors.forename: Tetsuharu
authors.initials: T
authors.lastname: Shinjyo
authors.forename: Akitoshi
authors.initials: A
authors.lastname: Nagasaki
authors.forename: Naoya
authors.initials: N
authors.lastname: Taira
authors.forename: Misao
authors.initials: M
authors.lastname: Ohki
authors.forename: Tatsuo
authors.initials: T
authors.lastname: Abe
authors.forename: Nobuyuki
authors.initials: N
authors.lastname: Takasu
mesh_terms: D002891:Chromosomes, Human, Pair 21; D002898:Chromosomes, Human, Pair 8; D050676:Core Binding Factor Alpha 2 Subunit; D005260:Female; D006801:Humans; D015470:Leukemia, Myeloid, Acute / Q000235:genetics*; D008875:Middle Aged; D015514:Oncogene Proteins, Fusion / Q000235:genetics; D000075142:RUNX1 Translocation Partner 1 Protein; D032681:Spectral Karyotyping; D014157:Transcription Factors / Q000235:genetics; D014178:Translocation, Genetic; D016159:Tumor Suppressor Protein p53 / Q000235:genetics; D014594:Uterine Neoplasms / Q000150:complications
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; D014157:Transcription Factors; D016159:Tumor Suppressor Protein p53