Philadelphia chromosome positive acute lymphoblastic leukemia showing normal karyotype in G-banding chromosomal examination before chemotherapy |
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Authors: | Akio Hato Tohru Murayama Shinichiro Nishikawa Kazuyoshi Kajimoto Hiroshi Gomyo Takeshi Sugimoto |
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Affiliation: | 1. Hematology/Oncology DivisionDepartment of Medicine, Hyogo Medical Center for Adults, 13-70, Kita-Oji, Akashi, Hyogo 673-8558, Japan;2. , Email: tmurayam@hp.pref.hyogo.jp |
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Abstract: | A 29-year-old male was admitted because of thrombocytopenia. A diagnosis of acute lymphoblastic leukaemia was made on the basis of a 61.6% infiltration of leukemic cells in his bone marrow. Standard G-binding chromosome analysis of bone marrow cells revealed a normal karyotype. He received combination chemotherapy, and achieved hematological complete remission. However, chromosomal analysis of bone marrow cells after 2 courses of consolidation therapy showed the Philadelphia (Ph) chromosome in two cells out of 20 analysed. We retrospectively examined the sample of bone marrow cells before chemotherapy; It showed minor BCR/ABL positivity with FISH and RT-PCR methods. The Ph chromosome disappeared after consolidation chemotherapy and allogeneic bone marrow transplantation, but the Ph chromosome reappeared at relapse. We postulated that there were two clones, both a Ph-positive clone and Ph-negative clone. At the initial diagnosis, Ph chromosome was not detected because the G-banding method analyzed only metaphase cells, which contained few Ph-positive clones. In order to offer effective therapy with molecular targeting agents, in this poor prognostic disease, it is necessary to detect Ph chromosome before the first chemotherapy and BCR/ABL detection with FISH or RT-PCR methods appears more useful than G-banding chromosome analysis. |
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Keywords: | ACUTE LYMPHOBLASTIC LEUKEMIA PHILADELPHIA CHROMOSOME FISH RT-PCR |
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