title: A chronic myeloid leukemia patient with atypical karyotype and BCR-ABL e13a3 transcript caused by complex chromosome rearrangement.
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.
authors: Division of Bone Marrow Transplantation, Niigata University Medical and Dental Hospital, 1-754 Asahimachi-dori, Chuo-ku, Niigata, 951-8520, Japan. mmasuko@med.niigata-u.ac.jp.
authors: Masayoshi
authors: M
authors: Masuko
authors: Division of Bone Marrow Transplantation, Niigata University Medical and Dental Hospital, 1-754 Asahimachi-dori, Chuo-ku, Niigata, 951-8520, Japan.
authors: Tatsuo
authors: T
authors: Furukawa
authors: Division of Hematology, Niigata University Medical and Dental Hospital, Niigata, Japan.
authors: Takashi
authors: T
authors: Abe
authors: Division of Clinical Preventive Medicine, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.
authors: Reiko
authors: R
authors: Wada
authors: Division of Internal Medicine, Niigata Minami Hospital, Niigata, Japan.
authors: Soichi
authors: S
authors: Maruyama
authors: Division of Hematology, Niigata University Medical and Dental Hospital, Niigata, Japan.
authors: Toshiki
authors: T
authors: Kitajima
authors: Division of Hematology, Niigata University Medical and Dental Hospital, Niigata, Japan.
authors: Yasuhiko
authors: Y
authors: Shibasaki
authors: Division of Hematology, Niigata University Medical and Dental Hospital, Niigata, Japan.
authors: Ken
authors: K
authors: Toba
authors: Division of Clinical Preventive Medicine, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.
authors: Masahiko
authors: M
authors: Okada
authors: Division of Hematology, Niigata University Medical and Dental Hospital, Niigata, Japan.
authors: Yoshifusa
authors: Y
authors: Aizawa
mesh_terms: D000328:Adult; D000970:Antineoplastic Agents / Q000627:therapeutic use; D044466:Asian People / Q000235:genetics; D001549:Benzamides; D002869:Chromosome Aberrations; D005260:Female; D016044:Fusion Proteins, bcr-abl / Q000235:genetics*; D006801:Humans; D000068877:Imatinib Mesylate; D017404:In Situ Hybridization, Fluorescence; D054438:Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative / Q000188:drug therapy / Q000235:genetics*; D010677:Philadelphia Chromosome; D010879:Piperazines / Q000627:therapeutic use; D011743:Pyrimidines / Q000627:therapeutic use; D014178:Translocation, Genetic
chemical_list: D000970:Antineoplastic Agents; D001549:Benzamides; D010879:Piperazines; D011743:Pyrimidines; D000068877:Imatinib Mesylate; D016044:Fusion Proteins, bcr-abl