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Insertion (21;8)(q22;q22q22) : a masked t(8;21) in a patient with acute myelocytic leukemia

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Title: Insertion (21;8)(q22;q22q22) : a masked t(8;21) in a patient with acute myelocytic leukemia
Authors: Onozawa, Masahiro Browse this author
Fukuhara, Takashi Browse this author
Nigo, Motohiko Browse this author
Takeda, Akinori Browse this author
Takahata, Mutsumi Browse this author
Yamamoto, Yasushi Browse this author
Miyake, Takayoshi Browse this author
Kanda, Makoto Browse this author
Maekawa, Isao Browse this author
Issue Date: Dec-2003
Publisher: Elsevier Inc.
Journal Title: Cancer Genetics and Cytogenetics
Volume: 147
Issue: 2
Start Page: 134
End Page: 139
Publisher DOI: 10.1016/S0165-4608(03)00199-7
PMID: 14623463
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).
Type: article (author version)
Appears in Collections:北海道大学病院 (Hokkaido University Hospital) > 雑誌発表論文等 (Peer-reviewed Journal Articles, etc)

Submitter: 小野澤 真弘

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