title: Insertion (21;8)(q22;q22q22): a masked t(8;21) in a patient with acute myelocytic leukemia.
abstract: A 43-year-old man was diagnosed with acute myelocytic leukemia with cellular maturation (AML-M2, according to the French-American-British classification criteria). A cytogenetic study with a G-banding method initially reported the karyotype as 45,X,-Y; however, dual-color, dual-fusion fluorescence in situ hybridization (FISH) with probes for the AML1 and the ETO genes showed an unusual pattern of signals, presenting one fusion signal on chromosome 21. Molecular study by reverse transcriptase polymerase chain reaction revealed the presence of a typical AML1/ETO chimeric gene. FISH with whole-chromosome painting probes targeting chromosomes 8 and 21 revealed insertion of part of 8 chromosome into the long arm of chromosome 21. We concluded that complicated translocations involving chromosomes 8 and 21 in this patient resulted in the development of the chimeric gene, AML1/ETO, on the long arm of chromosome 21. This aberrant location of AML1/ETO gene and the final karyotype of 45,X,-Y,ins(21;8)(q22;q22q22) could not be determined without molecular analysis. This abnormality is considered a masked t(8;21).
authors: Department of Internal Medicine, Asahikawa City Hospital 1-65, Kinseicho 1 chome, Asahikawa, Hokkaido, Japan. masahiro.onozawa@nifty.ne.jp
authors: Masahiro
authors: M
authors: Onozawa
authors: Takashi
authors: T
authors: Fukuhara
authors: Motohiko
authors: M
authors: Nigo
authors: Akinori
authors: A
authors: Takeda
authors: Mutsumi
authors: M
authors: Takahata
authors: Yasushi
authors: Y
authors: Yamamoto
authors: Takayoshi
authors: T
authors: Miyake
authors: Makoto
authors: M
authors: Kanda
authors: Isao
authors: I
authors: Maekawa
mesh_terms: D000328:Adult; D002891:Chromosomes, Human, Pair 21; D002898:Chromosomes, Human, Pair 8; D050676:Core Binding Factor Alpha 2 Subunit; D006801:Humans; D015470:Leukemia, Myeloid, Acute / Q000235:genetics*; D008297:Male; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D000075142:RUNX1 Translocation Partner 1 Protein; D020133:Reverse Transcriptase Polymerase Chain Reaction; D012680:Sensitivity and Specificity; D014157:Transcription Factors / Q000235:genetics*; 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; D014157:Transcription Factors