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A novel 203 kD aberrant BCR‐ABL product in a girl with Philadelphia chromosome positive acute lymphoblastic leultaemia
Author(s) -
Lnukai Takeshi,
Sugita Kanji,
Suzuki Toshio,
Ijima Kiyomu,
Goi Kumiko,
Tezuka Toru,
Kojika Satoru,
Hatakeyama Kazuo,
Kagami Keiko,
Mori Taijiro,
Okazaki Toshiko,
Mizutani Shuki,
Nakazawa Shinpei
Publication year - 1993
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.1993.tb03234.x
Subject(s) - philadelphia chromosome , exon , abl , breakpoint cluster region , cancer research , girl , medicine , fusion protein , tyrosine kinase , chromosomal translocation , microbiology and biotechnology , biology , genetics , gene , receptor , recombinant dna
Summary We report a girl with Ph 1 ‐positive ALL with the aberrant BCR‐ABL product. In this case. bcr exon 3 jointed not to ordinal abl exon 2 but to exon 3 resulting in the production of a 20 3 kD BCR‐ABL fusion protein with marked tyrosine kinase activity. To our knowledge, this is the first report of an aberrant BCR‐ABL product in childhood. This case was characterized with younger age and low leucocyte count at the onset, but relapsed early like the typical Ph l ‐positive ALL, suggesting the diversity in the clinicopathogenesis of Ph 1 ‐positive ALL.