title: A BCR-JAK2 fusion gene as the result of a t(9;22)(p24;q11) in a patient with acute myeloid leukemia.
abstract: We report the occurrence of a BCR-JAK2 fusion gene in a case of acute myeloid leukemia (AML) resulting from a t(9;22)(p24;q11) translocation as the sole cytogenetic abnormality. The BCR-JAK2 fusion gene has the same breakpoint in BCR as is found in the BCR/ABL p210. The chimeric gene is the result of a reciprocal translocation between chromosomes 9 and 22, which implies a double break on chromosome 9; this has allowed generating an in-frame fusion transcript. Previously, BCR-JAK2 rearrangement was observed in a single case with atypical chronic myelogenous leukemia (CML), but in that case the breakpoint in the BCR was different.
authors.affiliation: Department of Hematology, University of Genoa, V.le Benedetto XV-6, 16132 Genoa, Italy.
authors.forename: Gabriella
authors.initials: G
authors.lastname: Cirmena
authors.forename: Stefania
authors.initials: S
authors.lastname: Aliano
authors.forename: Giuseppina
authors.initials: G
authors.lastname: Fugazza
authors.forename: Roberto
authors.initials: R
authors.lastname: Bruzzone
authors.forename: Anna
authors.initials: A
authors.lastname: Garuti
authors.forename: Renata
authors.initials: R
authors.lastname: Bocciardi
authors.forename: Andrea
authors.initials: A
authors.lastname: Bacigalupo
authors.forename: Roberto
authors.initials: R
authors.lastname: Ravazzolo
authors.forename: Alberto
authors.initials: A
authors.lastname: Ballestrero
authors.forename: Mario
authors.initials: M
authors.lastname: Sessarego
mesh_terms: D000368:Aged; D001483:Base Sequence; D002892:Chromosomes, Human, Pair 22; D002899:Chromosomes, Human, Pair 9; D017931:DNA Primers; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D053614:Janus Kinase 2 / Q000235:genetics*; D015470:Leukemia, Myeloid, Acute / Q000235:genetics*; D051562:Proto-Oncogene Proteins c-bcr / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014178:Translocation, Genetic
chemical_list: D017931:DNA Primers; C507924:JAK2 protein, human; D053614:Janus Kinase 2; D051562:Proto-Oncogene Proteins c-bcr