A BCR-JAK2 fusion gene as the result of a t(9;22)(p24;q11) in a patient with acute myeloid leukemia.
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.
Cirmena
Gabriella
G
Department of Hematology, University of Genoa, V.le Benedetto XV-6, 16132 Genoa, Italy.
Aliano
Stefania
S
Fugazza
Giuseppina
G
Bruzzone
Roberto
R
Garuti
Anna
A
Bocciardi
Renata
R
Bacigalupo
Andrea
A
Ravazzolo
Roberto
R
Ballestrero
Alberto
A
Sessarego
Mario
M
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
D017931:DNA Primers; C507924:JAK2 protein, human; D053614:Janus Kinase 2; D051562:Proto-Oncogene Proteins c-bcr