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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
Author(s) -
Valle Laura,
Fernández Victoria,
PérezPons Concepción,
Sánchez Félix García,
Benítez Javier,
Urioste Miguel
Publication year - 2006
Publication title -
hematological oncology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.918
H-Index - 44
eISSN - 1099-1069
pISSN - 0278-0232
DOI - 10.1002/hon.775
Subject(s) - breakpoint cluster region , abl , philadelphia chromosome , fusion gene , chromosome 22 , chromosomal translocation , chromosome , biology , chronic myelogenous leukemia , chromosome 9 , karyotype , cancer research , microbiology and biotechnology , genetics , gene , leukemia , tyrosine kinase , signal transduction
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.