Authors: Masayoshi Masuko Tatsuo Furukawa Takashi Abe Reiko Wada Soichi Maruyama Toshiki Kitajima Yasuhiko Shibasaki Ken Toba Masahiko Okada Yoshifusa Aizawa
Publish Date: 2009/06/30
Volume: 90, Issue: 2, Pages: 230-234
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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