Rearrangement of the bcr gene in Philadelphia chromosome-negative chronic
myeloid leukemia
TS Ganesan, F Rassool, AP Guo, KH Th'ng, C Dowding, JA Hibbin, BD Young, H White, TO Kumaran and DA Galton
We studied the clinical, hematologic, cytogenetic, and molecular biologic
features of seven patients with Philadelphia (Ph1) chromosome- negative
chronic myeloid leukemia (CML). In five cases the hematologic findings were
indistinguishable from those of patients with classical Ph1-positive
disease. Myeloid cells were studied by chromosome-banding techniques. One
patient had a masked Ph1 chromosome (with translocation t(4;9;22)), one had
a deletion involving chromosome 16, and one had a small minority population
of 22q- cells without 9q+ but otherwise normal metaphases; metaphases from
the other four patients were entirely normal. DNA prepared from the myeloid
cells was digested with the restriction enzymes EcoRI, HindIII, BamHI and
BglII. Southern analysis using a 0.6-kb fragment of the breakpoint cluster
region (bcr) gene showed the presence in each patient's DNA of a germline
fragment together with a rearranged fragment or fragments with at least one
of the restriction enzymes. We conclude that genomic changes in the bcr
gene characteristic of CML can be present in the absence of a Ph1
chromosome.
Volume 68,
Issue 4,
pp. 957-960,
10/01/1986
Copyright © 1986 by The American Society of Hematology
