title: Chronic myeloid leukemia with an e1a3 BCR-ABL fusion protein: transformation to lymphoid blast crisis.
abstract: Chronic myelogenous leukemia (CML) results from the neoplastic transformation of a hematopoietic stem cell. CML is cytogenetically characterized by the presence of the Philadelphia chromosome (Ph'). Most patients with CML express e13a2 or e14a2 mRNAs that result from a rearrangement of the major breakpoint cluster regions (M-BCR) generating the 210-kDa (p210BCR-ABL) fusion proteins b2a2 or b3a2 respectively. The e1a3 CML-related atypical translocation has been reported with an indolent clinical course, low leukocyte count, long chronic phase even without treatment and good response to therapy. We report the case of a patient initially diagnosed as CML in chronic phase whose cells expressed the e1a3 variant. The patient readily responded to imatinib 400 mg with the achievement of a rapid complete cytogenetic response and the normalization of the blood count values, but after 5 months transformed into lymphoid blast crisis.
authors.affiliation: Department of Hematology, University Hospital Son Espases, Palma de Mallorca, Spain.|Instituto de Investigación Sanitaria de Palma (IdISPa), Palma de Mallorca, Spain.
authors.forename: Jordi
authors.initials: J
authors.lastname: Martinez-Serra
authors.affiliation: Department of Hematology, Hospital Son Llatzer, Palma de Mallorca, Spain.
authors.forename: Raquel
authors.initials: R
authors.lastname: Del Campo
authors.affiliation: Department of Hematology, University Hospital Son Espases, Palma de Mallorca, Spain.|Instituto de Investigación Sanitaria de Palma (IdISPa), Palma de Mallorca, Spain.
authors.forename: Antonio
authors.initials: A
authors.lastname: Gutierrez
authors.affiliation: Department of Hematology, Clinica Rotger, Palma de Mallorca, Spain.
authors.forename: Jose Luis
authors.initials: JL
authors.lastname: Antich
authors.affiliation: Department of Hematology, Clinica Rotger, Palma de Mallorca, Spain.
authors.forename: Magdalena
authors.initials: M
authors.lastname: Ginard
authors.affiliation: Department of Hematology, University Hospital Son Espases, Palma de Mallorca, Spain.
authors.forename: Maria A
authors.initials: MA
authors.lastname: Durán
authors.affiliation: Department of Hematology, University Hospital Son Espases, Palma de Mallorca, Spain.|Instituto de Investigación Sanitaria de Palma (IdISPa), Palma de Mallorca, Spain.
authors.forename: Leyre
authors.initials: L
authors.lastname: Bento
authors.affiliation: Department of Hematology, University Hospital Son Espases, Palma de Mallorca, Spain.
authors.forename: Teresa
authors.initials: T
authors.lastname: Ros
authors.affiliation: Department of Hematology, University Hospital Son Espases, Palma de Mallorca, Spain.
authors.forename: Juan C
authors.initials: JC
authors.lastname: Amat
authors.affiliation: Core of Sequentiation, University Hospital Son Espases, Palma de Mallorca, Spain.
authors.forename: Carmen
authors.initials: C
authors.lastname: Vidal
authors.affiliation: Department of Immunology, University Hospital Son Espases, Palma de Mallorca, Spain.
authors.forename: Julio F
authors.initials: JF
authors.lastname: Iglesias
authors.affiliation: Department of Hematology, University Hospital Son Espases, Palma de Mallorca, Spain.
authors.forename: Izabela
authors.initials: I
authors.lastname: Orlinska
authors.affiliation: Department of Hematology, University Hospital Son Espases, Palma de Mallorca, Spain.|Instituto de Investigación Sanitaria de Palma (IdISPa), Palma de Mallorca, Spain.
authors.forename: Joan
authors.initials: J
authors.lastname: Besalduch
keywords: ALL; CML; bcr-abl; e1a3