Hematol Oncol. 2006 Jun;24(2):86-8.

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.

Valle L, Fernández V, Pérez-Pons C, Sánchez FG, Benítez J, Urioste M.

Source

Familial Cancer Unit, Human Cancer Genetics Program, Centro Nacional de Investigaciones Oncológicas, Madrid, Spain. lvalle@cnio.es

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.

PMID:: 16598834; [PubMed - indexed for MEDLINE]

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Substances

Fusion Proteins, bcr-abl

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