Abstract
The Philadelphia chromosome (Ph′) is found in the blood cells of about 90% of patients with chronic myeloid leukaemia (CML) and usually results from the reciprocal chromosome translocation t(9; 22)1,2. This translocation relocates the proto-oncogene c-abl, normally found on chromosome 9q34, to within the breakpoint cluster region (bcr) on chromosome 22qll (refs 3–8). The juxtaposition of c-abl and the 5′ portion of bcr appears to be the critical genomic event in CML and results in a novel 8-kilobase (kb) fused abl/bcr transcript9,10 and a c-abl-related protein of relative molecular mass 210,000 (ref. 11). About 10% of adult patients diagnosed as CML lack the Ph′ chromosome; they represent a heterogeneous group of disorders which are difficult to diagnose precisely12. We have examined five patients with CML whose leukaemic cells have a normal karyotype. We report here that two of the patients showed the same genomic change as occurs in Ph′-positive CML, but the change resulted from a mechanism other than chromosomal translocation. The remaining three patients showed no genomic rearrangement. This genomic diversity correlated with the clinical differences between the patients.
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Morris, C., Reeve, A., Fitzgerald, P. et al. Genomic diversity correlates with clinical variation in Ph′-negative chronic myeloid leukaemia. Nature 320, 281–283 (1986). https://doi.org/10.1038/320281a0
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DOI: https://doi.org/10.1038/320281a0
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