A chronic myeloid leukemia patient with atypical karyotype and BCR-ABL e13a3 transcript caused by complex chromosome rearrangement.
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.
Masuko
Masayoshi
M
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.
Furukawa
Tatsuo
T
Division of Bone Marrow Transplantation, Niigata University Medical and Dental Hospital, 1-754 Asahimachi-dori, Chuo-ku, Niigata, 951-8520, Japan.
Abe
Takashi
T
Division of Hematology, Niigata University Medical and Dental Hospital, Niigata, Japan.
Wada
Reiko
R
Division of Clinical Preventive Medicine, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.
Maruyama
Soichi
S
Division of Internal Medicine, Niigata Minami Hospital, Niigata, Japan.
Kitajima
Toshiki
T
Division of Hematology, Niigata University Medical and Dental Hospital, Niigata, Japan.
Shibasaki
Yasuhiko
Y
Division of Hematology, Niigata University Medical and Dental Hospital, Niigata, Japan.
Toba
Ken
K
Division of Hematology, Niigata University Medical and Dental Hospital, Niigata, Japan.
Okada
Masahiko
M
Division of Clinical Preventive Medicine, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.
Aizawa
Yoshifusa
Y
Division of Hematology, Niigata University Medical and Dental Hospital, Niigata, Japan.
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
D000970:Antineoplastic Agents; D001549:Benzamides; D010879:Piperazines; D011743:Pyrimidines; D000068877:Imatinib Mesylate; D016044:Fusion Proteins, bcr-abl