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Double minutes containing amplified bcr‐abl fusion gene in a case of chronic myeloid leukemia treated by imatinib
Author(s) -
Morel Frédéric,
Bris MarieJosée Le,
Herry Angèle,
Calvez Geneviève Le,
Marion Véronique,
Abgrall JeanFrançois,
Berthou Christian,
Braekeleer Marc De
Publication year - 2003
Publication title -
european journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.904
H-Index - 84
eISSN - 1600-0609
pISSN - 0902-4441
DOI - 10.1034/j.1600-0609.2003.00046.x
Subject(s) - imatinib , fusion gene , myeloid leukemia , abl , philadelphia chromosome , breakpoint cluster region , cancer research , chromosomal translocation , fluorescence in situ hybridization , biology , imatinib mesylate , transplantation , medicine , chromosome , gene , genetics , tyrosine kinase , signal transduction
Amplification of the bcr‐abl fusion gene has recently been associated with resistance to imatinib therapy in chronic myeloid leukemia (CML). A 55‐yr‐old man was diagnosed with Philadelphia (Ph) chromosome‐positive CML. Resistance to interferon treatment and occurrence of blastic phase lead to the decision of imatinib therapy. After two autologous stem cell transplantation, the patient reverted to chronic phase with a decrease in the proportion of Ph chromosome‐positive cells under imatinib. A second blastic phase occurred 4 months after transplantation, of which the patient died. Cytogenetic studies, including fluorescent in situ hybridization, showed a (9;22)(q34;q11) translocation and one bcr‐abl fusion gene during the whole evolution, but for the last 2 months. Bcr‐abl gene amplification (over 25 copies) was noted while banding cytogenetics showed a karyotype of 55–62 chromosomes with multiple double minutes (dmin). To the best of our knowledge, dmin containing amplified bcr‐abl gene has never been reported in patients with CML. Therefore, although we cannot exclude that the gene amplification was strictly associated with disease progression, our data may suggest that the amplification resulted in resistance to imatinib.