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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

✍ Scribed by Laura Valle; Victoria Fernández; Concepción Pérez-Pons; Félix García Sánchez; Javier Benítez; Miguel Urioste

Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
165 KB
Volume
24
Category
Article
ISSN
0278-0232

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✦ Synopsis

Abstract

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.

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