Generation of the BCR/ABL fusion gene in a Philadelphia chromosome-negative chronic myeloid leukaemia: insertion of 5.6 Mb of 9q34 into the BCR region of chromosome 22.
This report describes a chronic myelogenous leukaemia patient with an apparently normal bone marrow karyotype but BCR/ABL fusion-gene-positive. Commercial FISH probes showed an atypical pattern and the BCR/ABL fusion transcript was detected by RT-PCR, but not the reciprocal ABL/BCR. Consecutive FISH assays clarified the mechanism of the masked Ph. The ABL gene and the following 5.6-5.7 Mb of 9q are inserted into the BCR region of chromosome 22. There is no transference of 22q material to chromosome 9 or to any other chromosomes. Clinical features and evolution of the patient are similar to those cases with classic Ph chromosome.
Valle
Laura
L
Familial Cancer Unit, Human Cancer Genetics Program, Centro Nacional de Investigaciones Oncológicas, Madrid, Spain. lvalle@cnio.es
Fernández
Victoria
V
Pérez-Pons
Concepción
C
Sánchez
Félix García
FG
Benítez
Javier
J
Urioste
Miguel
M
D000368:Aged; D002874:Chromosome Mapping; D002892:Chromosomes, Human, Pair 22; D016044:Fusion Proteins, bcr-abl / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D015464:Leukemia, Myelogenous, Chronic, BCR-ABL Positive / Q000235:genetics*; D008297:Male
D016044:Fusion Proteins, bcr-abl