BCR/ABL rearrangement in two cases of Philadelphia chromosome negative chronic myeloid leukemia: Deletion on the derivative chromosome 9 may or not be present

Denise A.S. Batista, Anita Hawkins, Kathleen M. Murphy, Constance A. Griffin

Research output: Contribution to journalArticle

Abstract

The BCR/ABL gene rearrangement is the causing factor in chronic myeloid leukemia (CML). In most cases, it is cytogenetically visualized as a translocation between chromosomes 9 and 22, known as the Philadelphia (Ph) translocation. About 5-10% of CML patients lack cytogenetic evidence of the Ph translocation but show BCR/ABL fusion by fluorescence in situ hybridization (FISH) or reverse transcriptase-polymerase chain reaction. Deletions around the breakpoints on the derivative 9 including ABL and or BCR sequences occur in 10-15% of Ph+ CML patients and are thought to have prognostic significance. We describe two patients with CML and normal karyotype in whom cryptic rearrangements involving chromosomes 9 and 22 resulted in the causative BCR/ABL gene. FISH with a three-color probe combination revealed BCR/ABL fusion on chromosome 9 without deletion in one patient; the other patient had BCR/ABL on chromosome 22 with an associated derivative 9 deletion. We discuss the proposed mechanisms in the formation of BCR/ABL in the setting of a normal karyotype. Some authors reported that patients with the chimeric gene located on the derivative 9 have a poor clinical course. We suggest that deletion rather than location of the chimeric gene alone is more likely to be associated with prognosis.

Original languageEnglish (US)
Pages (from-to)164-167
Number of pages4
JournalCancer Genetics and Cytogenetics
Volume163
Issue number2
DOIs
StatePublished - Dec 1 2005

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Cancer Research

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