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A chronic myeloid leukemia patient with atypical karyotype and BCR-ABL e13a3 transcript caused by complex chromosome rearrangement.

Authors
  • Masuko, Masayoshi1
  • Furukawa, Tatsuo2
  • Abe, Takashi3
  • Wada, Reiko4
  • Maruyama, Soichi5
  • Kitajima, Toshiki3
  • Shibasaki, Yasuhiko3
  • Toba, Ken3
  • Okada, Masahiko4
  • Aizawa, Yoshifusa3
  • 1 Division of Bone Marrow Transplantation, Niigata University Medical and Dental Hospital, 1-754 Asahimachi-dori, Chuo-ku, Niigata, 951-8520, Japan. [email protected] , (Japan)
  • 2 Division of Bone Marrow Transplantation, Niigata University Medical and Dental Hospital, 1-754 Asahimachi-dori, Chuo-ku, Niigata, 951-8520, Japan. , (Japan)
  • 3 Division of Hematology, Niigata University Medical and Dental Hospital, Niigata, Japan. , (Japan)
  • 4 Division of Clinical Preventive Medicine, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan. , (Japan)
  • 5 Division of Internal Medicine, Niigata Minami Hospital, Niigata, Japan. , (Japan)
Type
Published Article
Journal
International Journal of Hematology
Publisher
Springer-Verlag
Publication Date
Sep 01, 2009
Volume
90
Issue
2
Pages
230–234
Identifiers
DOI: 10.1007/s12185-009-0368-4
PMID: 19565180
Source
Medline
License
Unknown

Abstract

Philadelphia (Ph) chromosome as a result of t (9; 22) (q34; q11) is observed in more than 90% of chromic myeloid leukemia (CML) patients. Cases in which the typical Ph chromosome is not visible at the karyotype level comprise 5-10% of CML patients. CML cases with fusion transcripts such as e13a3 in which ABL exon 3 rather than exon 2 has fused to BCR are very rare. Such reported cases with the e13a3 transcript show the Ph chromosome on karyotype analysis. We reported an atypical karyotype CML patient with the e13a3 BCR-ABL transcript caused by complex translocation. Fluorescence in situ hybridization (FISH) analysis of the metaphase led to a precise cytogenetical characterization. The patient showed favorable response to imatinib, and achieved major molecular responses.

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