Insertion (22;9)(q11;q34q21) in a patient with chronic myeloid leukemia characterized by fluorescence in situ hybridization.
An unusual cytogenetic rearrangement, described as ins(22;9)(q11;q34q21), was detected in a 49-year-old male patient diagnosed with chronic myeloid leukemia (CML). Reverse transcriptase polymerase chain reaction (RT-PCR) revealed a b3a2 fusion transcript. In order to confirm the cytogenetic findings and fully characterize the inverted insertion, we performed fluorescence in situ hybridization (FISH) assays using locus-specific and whole chromosome painting probes. Our FISH analysis showed the presence of the BCR/ABL fusion gene, verified the insertion and determined that the breakpoint on chromosome 22 where the insertion took place was located proximal to the BCR gene and distal to the TUPLE1 gene on 22q11.
Martín-Subero
J I
JI
Department of Genetics, University of Navarra, Irunlarrea s/n, 31008, Pamplona, Spain.
Lahortiga
I
I
Gómez
E
E
Ferreira
C
C
Larrayoz
M J
MJ
Odero
M D
MD
García-Delgado
M
M
Novo
F J
FJ
Giraldo
P
P
Calasanz
M J
MJ
D014408:Biomarkers, Tumor / Q000032:analysis / Q000235:genetics*; D001853:Bone Marrow / Q000473:pathology; D002871:Chromosome Banding; D019457:Chromosome Breakage; D007446:Chromosome Inversion; D020223:Chromosome Painting; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics / Q000648:ultrastructure*; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics / Q000648:ultrastructure*; D002999:Clone Cells / Q000473:pathology; D016044:Fusion Proteins, bcr-abl / Q000032:analysis / Q000235:genetics*; D006801:Humans; D007621:Karyotyping; D015464:Leukemia, Myelogenous, Chronic, BCR-ABL Positive / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D008297:Male; D008875:Middle Aged; D008957:Models, Genetic; D016254:Mutagenesis, Insertional; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014178:Translocation, Genetic
D014408:Biomarkers, Tumor; D016044:Fusion Proteins, bcr-abl