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Location of breakpoints within the major breakpoint cluster region ( bcr ) in 33 patients with bcr rearrangement‐positive chronic myeloid leukemia (CML) with complex or absent Philadelphia chromosomes
Author(s) -
Dubé Ian,
Dixon Julie,
Beckett Teresa,
Grossman Abraham,
Weinstein Martha,
Benn Peter,
McKeithan Timothy,
Norman Con,
Pinkerton Peter
Publication year - 1989
Publication title -
genes, chromosomes and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.754
H-Index - 119
eISSN - 1098-2264
pISSN - 1045-2257
DOI - 10.1002/gcc.2870010116
Subject(s) - breakpoint cluster region , breakpoint , chromosomal translocation , biology , myeloid leukemia , philadelphia chromosome , genetics , cytogenetics , chromosome , karyotype , abl , leukemia , chromosome 22 , microbiology and biotechnology , cancer research , gene , receptor , tyrosine kinase
We report the sublocalization of the breakpoint in chromosome 22 in 33 patients with chronic myeloid leukemia (CML) who also had unusual marrow cytogenetics. In 23 patients, the leukemic clones were characterized by Philadelphia (Ph 1 ) chromosomes that arose through complex translocations that involved three or more chromosomes. In the remaining ten patients, there were no detectable Ph 1 chromosomes despite molecular evidence for the presence of rearrangements in the major breakpoint cluster region ( bcr ) of chromosome 22 in all cases. There was no significant difference between the two groups with respect to location of the breakpoints within the bcr. When these two groups of patients were combined, there was a significant excess of breakpoints in one segment of the bcr when compared to the distribution of breakpoints seen in 119 patients with simple 9;22 translocations. The difference in breakpoint distributions did not appear to be entirely attributable to differences between groups in disease duration at the time of study. These data support the notion that the unusual genetic recombinations that give rise to BCR/ABL fusion genes in CML involve specific DNA sequences of BCR (and possibly ABL ) and additional, recombinogenic sequences, at least some of which are present in loci known to be nonrandomly involved in complex Ph 1 translocations.