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Chronic myelogenous leukemia with e13a3 (b2a3) type of BCR‐ABL transcript having a DNA breakpoint between ABL exons a2 and a3
Author(s) -
Liu LiGen,
Tanaka Hideo,
Ito Kinro,
Kyo Taiichi,
Ito Takuo,
Kimura Akiro
Publication year - 2003
Publication title -
american journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.456
H-Index - 105
eISSN - 1096-8652
pISSN - 0361-8609
DOI - 10.1002/ajh.10429
Subject(s) - chronic myelogenous leukemia , breakpoint , breakpoint cluster region , exon , abl , cancer research , philadelphia chromosome , leukemia , biology , microbiology and biotechnology , medicine , genetics , gene , chromosomal translocation , tyrosine kinase , receptor
We describe a patient with chronic myelogenous leukemia (CML), in whom the DNA breakpoint in the BCR‐ABL fusion gene was determined to result in a rare e13a3 (b2a3) transcript. The breakpoint in BCR was intron 13, which was 30 bp downstream from exon 13, and the breakpoint in ABL was intron 2, and was 46 bp downstream from exon a2. This case conforms to the mechanism of DNA breakage occurring within ABL intron 2, but not at 5′ to ABL exon a2. With our review of this case and the literature, it seems that CML with the BCR ‐a3 fusion product is associated with a low proportion of circulating immature cells, mild or lack of splenomegaly, slow progressiveness, rather resistance to IFN‐α, and good response to imatinib mesylate. This is the first report of BCR ‐a3‐type CML in which the exact DNA breakpoint was identified and located between exons a2 and a3 of the ABL gene. Am. J. Hematol. 74:268–272, 2003. © 2003 Wiley‐Liss, Inc.