Breakpoints of variant 9;22 translocations in chronic myeloid leukemia locate preferentially in the CG-richest regions of the genome

Andrew M. Fisher, Paul Strike, Claire Scott, Anthony V. Moorman

Research output: Contribution to journalArticlepeer-review

28 Scopus citations

Abstract

From 5% to 10% of 9;22 translocations in chronic myeloid leukemia (CML) are reported to occur in variant form, that is, with the involvement of other regions of the genome in 3-way or more rearrangements. The literature indicates that the alternative breakpoints are not distributed randomly in the genome but show hotspots. We present data on 289 unpublished cases of CML with variant 9;22 translocations having a total of 342 variant breakpoints, the largest independent series to date. We found that the distribution of breaks was in loose agreement with the literature but that some new hotspots were identified; furthermore, some published hotspots were not fully supported by our data. Moreover, when our 342 variant breakpoints were plotted against profiles of CG heterogeneity in the genome, a significant positive correlation between breakpoint locations and CG composition was observed. In an ancillary study, we compared the frequency of variant t(9;22) with that of variants of t(15;17) associated with acute promyelocytic leukemia (AML M3). We found that the frequency of the former, 9.3%, was significantly higher than that of the latter, 2.6%.

Original languageEnglish (US)
Pages (from-to)383-389
Number of pages7
JournalGenes Chromosomes and Cancer
Volume43
Issue number4
DOIs
StatePublished - Aug 2005
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Cancer Research

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