title: A novel 203 kD aberrant BCR-ABL product in a girl with Philadelphia chromosome positive acute lymphoblastic leukaemia.
abstract: We report a girl with Ph1-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 203 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 Ph1-positive ALL, suggesting the diversity in the clinicopathogenesis of Ph1-positive ALL.
authors.affiliation: Department of Paediatrics, Yamanashi Medical College, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Inukai
authors.forename: K
authors.initials: K
authors.lastname: Sugita
authors.forename: T
authors.initials: T
authors.lastname: Suzuki
authors.forename: K
authors.initials: K
authors.lastname: Ijima
authors.forename: K
authors.initials: K
authors.lastname: Goi
authors.forename: T
authors.initials: T
authors.lastname: Tezuka
authors.forename: S
authors.initials: S
authors.lastname: Kojika
authors.forename: K
authors.initials: K
authors.lastname: Hatakeyama
authors.forename: K
authors.initials: K
authors.lastname: Kagami
authors.forename: T
authors.initials: T
authors.lastname: Mori
mesh_terms: D001483:Base Sequence; D015139:Blotting, Southern; D015153:Blotting, Western; D002675:Child, Preschool; D005260:Female; D016044:Fusion Proteins, bcr-abl / Q000235:genetics / Q000378:metabolism*; D015321:Gene Rearrangement; D006801:Humans; D007958:Leukocyte Count; D008969:Molecular Sequence Data; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000235:genetics / Q000378:metabolism*; D012333:RNA, Messenger
chemical_list: D012333:RNA, Messenger; D016044:Fusion Proteins, bcr-abl