title: E1A3 as a unique, naturally occurring BCR-ABL transcript in an indolent case of chronic myeloid leukaemia.
abstract: A woman with Ph-positive chronic myeloid leukaemia (CML) with an atypical e1a3 BCR-ABL hybrid gene is described. To our knowledge, this is the first report of this transcript type as a unique naturally occurring BCR-ABL fusion in a CML patient. This case was characterized by a low leucocyte count and a very indolent course without treatment. Because the deletion of ABL exon 2 sequences results in deletion of an essential part of the ABL SH3 domain, our case suggests that this ABL SH3 domain is not absolutely necessary for efficient induction of a myeloproliferative disease in the context of BCR-ABL/p190.
authors.affiliation: Haematology Department, Reina Sofia Hospital, Cordoba, Spain. peperosa@teleline.es
authors.forename: J
authors.initials: J
authors.lastname: Roman
authors.forename: A
authors.initials: A
authors.lastname: Jimenez
authors.forename: M
authors.initials: M
authors.lastname: Barrios
authors.forename: J A
authors.initials: JA
authors.lastname: Castillejo
authors.forename: J
authors.initials: J
authors.lastname: Maldonado
authors.forename: A
authors.initials: A
authors.lastname: Torres
mesh_terms: D000368:Aged; D005260:Female; D016044:Fusion Proteins, bcr-abl; D006801:Humans; D015466:Leukemia, Myeloid, Chronic-Phase / Q000235:genetics / Q000276:immunology / Q000378:metabolism*; D007958:Leukocyte Count; D010677:Philadelphia Chromosome; D020133:Reverse Transcriptase Polymerase Chain Reaction
chemical_list: D016044:Fusion Proteins, bcr-abl