title: Molecular response to imatinib in chronic myeloid leukaemia with a variant e13a3 BCR-ABL1 fusion.
abstract: The majority of chronic myeloid leukaemia (CML) patients express either e13a2 or e14a2 BCR-ABL1 transcripts. Variant fusion genes can arise, usually due to alternative splicing of either BCR or ABL1 exons, with molecular monitoring by quantitative PCR (qPCR) in response to tyrosine kinase inhibitor therapy rarely reported in such cases. A case of CML is described in which an e13a3 BCR-ABL1 fusion was characterised. A qPCR methodology was developed and applied prospectively to demonstrate a favourable molecular response to imatinib treatment. This case serves to highlight the requirement for molecular monitoring of those CML patients harbouring the e13a3 and other variant BCR-ABL1 transcripts.
authors.affiliation: Central Pathology Laboratory, Cancer Molecular Diagnostics, St. James's Hospital, Dublin 8, Ireland.
authors.forename: Sarah L
authors.initials: SL
authors.lastname: McCarron
authors.forename: Stephen E
authors.initials: SE
authors.lastname: Langabeer
authors.forename: Karen
authors.initials: K
authors.lastname: Bolger
authors.forename: Karl
authors.initials: K
authors.lastname: Haslam
authors.forename: Mireille
authors.initials: M
authors.lastname: Crampe
authors.forename: Johanna
authors.initials: J
authors.lastname: Kelly
authors.forename: Ruth
authors.initials: R
authors.lastname: Morrell
mesh_terms: D000368:Aged; D000970:Antineoplastic Agents / Q000627:therapeutic use*; D001483:Base Sequence; D001549:Benzamides / Q000627:therapeutic use*; D016044:Fusion Proteins, bcr-abl / Q000235:genetics*; D006801:Humans; D000068877:Imatinib Mesylate; D015464:Leukemia, Myelogenous, Chronic, BCR-ABL Positive / Q000188:drug therapy* / Q000235:genetics*; D008297:Male; D010879:Piperazines / Q000627:therapeutic use*; D011743:Pyrimidines / Q000627:therapeutic use*; D060888:Real-Time Polymerase Chain Reaction
chemical_list: D000970:Antineoplastic Agents; D001549:Benzamides; D010879:Piperazines; D011743:Pyrimidines; D000068877:Imatinib Mesylate; D016044:Fusion Proteins, bcr-abl