Abstract
Chronic myeloid leukemia (CML) is a clonal malignant disorder of a pluripotent hematopoietic stem cell and is characterized by the presence of Philadelphia chromosome (Ph) in more than 90% of cases [ [1] Johansson B. Fioretos T. Mitelman F. Cytogenetic and molecular genetic evolution of chronic myeloid leukemia. Acta Haematol. 2002; 107: 76-94 Crossref PubMed Scopus (352) Google Scholar ]. Ph is a product of reciprocal translocation between the long arms of chromosomes 9 and 22. This rearrangement combines the ABL1 proto-oncogene on chromosome 9 with the breakpoint cluster region (BCR gene) on chromosome 22. However, variant complex chromosomal translocations involving one or more chromosomes in addition to 9 and 22 are detected in 2–10% of CML cases [ [1] Johansson B. Fioretos T. Mitelman F. Cytogenetic and molecular genetic evolution of chronic myeloid leukemia. Acta Haematol. 2002; 107: 76-94 Crossref PubMed Scopus (352) Google Scholar ]. It is generally accepted that the clinical, prognostic, and hematologic features of CML with variant translocations are not distinct from those with the typical t(9;22) [ [1] Johansson B. Fioretos T. Mitelman F. Cytogenetic and molecular genetic evolution of chronic myeloid leukemia. Acta Haematol. 2002; 107: 76-94 Crossref PubMed Scopus (352) Google Scholar ]. It has been reported recently, however, that deletions on derivative chromosome 9 [der(9)] are associated with a shorter duration of the chronic phase and a poor response to interferon and imatinib mesylate [ 2 Reid A.G. Huntly B.J. Grace C. Green A.R. Nacheva E.P. Survival implications of molecular heterogeneity in variant Philadelphia-positive chronic myeloid leukaemia. Brit J Haematol. 2003; 121: 419-427 Crossref PubMed Scopus (75) Google Scholar , 3 Bennour A. Sennana H. Laatiri M.A. Elloumi M. Khelif A. Saad A. Molecular cytogenetic characterization of variant Philadelphia translocations in chronic myeloid leukemia: genesis and deletion of derivative chromosome 9. Cancer Genet Cytogenet. 2009; 194: 30-37 Abstract Full Text Full Text PDF PubMed Scopus (27) Google Scholar ], and that variant translocation involving chromosome 6 at 6p21.2 may represent a marker of therapy resistance in CML [ [4] Orciuolo E. Buda G. Galimberti S. Cervetti G. Cecconi N. Papineschi F. et al. Complex translocation t(6;9;22)(p21.1;q34;q11) at diagnosis is a therapy resistance index in chronic myeloid leukaemia. Leuk Res. 2008; 32: 190-191 Abstract Full Text Full Text PDF PubMed Scopus (5) Google Scholar ]. We report herein the first case of CML with a novel four-way translocation involving chromosomes 9, 22, 6, and 13 that was successfully treated with imatinib.
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