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...

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Bibliographic Details
Published in:Hematological oncology 2006-06, Vol.24 (2), p.86-88
Main Authors: Valle, Laura, Fernández, Victoria, Pérez‐Pons, Concepción, Sánchez, Félix García, Benítez, Javier, Urioste, Miguel
Format: Article
Language:English
Subjects:
Aged
BCR/ABL
Chromosome Mapping
Chromosomes, Human, Pair 22
Chronic Myeloid Leukaemia
CML
Fusion Proteins, bcr-abl - genetics
Humans
In Situ Hybridization, Fluorescence
Leukemia, Myelogenous, Chronic, BCR-ABL Positive - genetics
Male
Masked Ph
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Summary: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. Copyright © 2006 John Wiley & Sons, Ltd.
ISSN:0278-0232
1099-1069
DOI:10.1002/hon.775