title: Spectral karyotyping and fluorescence in situ hybridization analyses identified a novel three-way translocation involving inversion 16 in therapy-related acute myeloid leukemia M4eo.
abstract: We report a novel three-way translocation involving inversion 16 and chromosome 12 at bands 16p13, 16q22, and 12q24 in a patient with therapy-related acute myeloid leukemia (AML)-M4eo. Conventional G-banding of bone marrow cells at diagnosis was suggestive of inv(16)(p13q22) and a translocation of chromosomes 12 and 16. The presence of inv(16) was confirmed by reverse-transcription polymerase chain reaction (RT-PCR) analysis, which corresponded to the type A CBFB-MYH11 chimeric transcript. Spectral karyotyping (SKY) analysis clearly identified a reciprocal translocation between chromosomes 12 and 16. In addition, dual-color fluorescence in situ hybridization (FISH) analysis revealed a fusion signal for the CBFB and MYH11 probes and a signal for the MYH11 probe on the der(16) chromosome, as well as a signal for the CBFB probe on the der(12) chromosome. Thus, the karyotype was refined to 46,XX,der(12)t(12;16)(q24;q22),der(16)inv(16)(p13q22)t(12;16). Although we could not establish that this complex chromosomal aberration occurred either as a one-step, three-way event, or a sequential event with inv(16)(p13q22) followed by t(12;16)(q24;q22), SKY in combination with FISH and RT-PCR analyses successfully detected this complex chromosome abnormality in the patient.
authors.affiliation: Department of Transfusion Medicine and Stem Cell Regulation, Juntendo University School of Medicine, 2-1-1 Hongo, Bunkyo-ku, Tokyo 113-8421, Japan. ohsaka@med.juntendo.ac.jp
authors.forename: Akimichi
authors.initials: A
authors.lastname: Ohsaka
authors.forename: Kaori
authors.initials: K
authors.lastname: Otsubo
authors.forename: Harushige
authors.initials: H
authors.lastname: Yokota
authors.forename: Tomoko
authors.initials: T
authors.lastname: Hisa
authors.forename: Hajime
authors.initials: H
authors.lastname: Saito
authors.forename: Takazumi
authors.initials: T
authors.lastname: Kozaki
mesh_terms: D000971:Antineoplastic Combined Chemotherapy Protocols / Q000009:adverse effects; D007446:Chromosome Inversion; D002885:Chromosomes, Human, Pair 16; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D015470:Leukemia, Myeloid, Acute / Q000139:chemically induced / Q000235:genetics*; D008875:Middle Aged; D016609:Neoplasms, Second Primary / Q000235:genetics*; D032681:Spectral Karyotyping; D014178:Translocation, Genetic