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Extra BCR/ABL fusion mosaicism in 18p in a CML Ph-positive patient with erythroblastic transformation

      The BCR/ABL fusion in 22q11 is observed in ∼95% of patients with chronic myeloid leukemia (CML). In the blastic phase of CML, several additional chromosome aberrations to the Ph chromosome may be found in 75–80% of patients, such as trisomies 8 and 19, double Ph chromosome and an isochromosome 17q [
      • Sandberg A.A.
      The chromosomes in human cancer and leukemia.
      ,
      • Mitelman F.
      The cytogenetic scenario of chronic myeloid leukemia.
      ,
      • Heim S.
      • Mitelman F.
      Cancer cytogenetics.
      ]; however, the presence of additional copies of the BCR/ABL fusion onto structurally abnormal chromosomes has rarely been reported. Three cases of transposition of duplicated BCR/ABL on chromosome 18 have been described, associated with additional chromosome aberrations [
      • Tanaka K.
      • Arif M.
      • Kyo T.
      • Dohy H.
      • Kamada N.
      Transposition of duplicated chromosomal segment involving fused BCR/ABL gene or ABL oncogene alone in chronic myelocytic leukemia and Ph chromosome-positive acute leukemia with complex karyotypes.
      ,
      • Khac F.N.
      • Waill M.C.
      • Romana S.P.
      • Radford-Weiss I.
      • Busson M.
      • Collonge-Rame M.A.
      • Ribadeau-Dumas A.
      • Piffaut M.C.
      • Daniel M.T.
      • Davi F.
      • Merle-Béral H.
      • Berger R.
      • Arock M.
      Identical abnormality of the short arm of chromosome 18 in two Philadelphia-positive chronic myelocytic leukemia patients with erythroblastic transformation, resulting in duplication of BCR/ABL1 fusion.
      ]. We present the case of a patient with Ph-positive CML and an extra fusion BCR/ABL on chromosome 18 in the blastic phase.
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      References

        • Sandberg A.A.
        The chromosomes in human cancer and leukemia.
        2nd ed. Elsevier, New York1990
        • Mitelman F.
        The cytogenetic scenario of chronic myeloid leukemia.
        Leuk Lymphoma. 1993; 11: 11-15
        • Heim S.
        • Mitelman F.
        Cancer cytogenetics.
        2nd ed. Wiley-Liss, New York1995
        • Tanaka K.
        • Arif M.
        • Kyo T.
        • Dohy H.
        • Kamada N.
        Transposition of duplicated chromosomal segment involving fused BCR/ABL gene or ABL oncogene alone in chronic myelocytic leukemia and Ph chromosome-positive acute leukemia with complex karyotypes.
        Cancer Genet Cytogenet. 2000; 119: 8-14
        • Khac F.N.
        • Waill M.C.
        • Romana S.P.
        • Radford-Weiss I.
        • Busson M.
        • Collonge-Rame M.A.
        • Ribadeau-Dumas A.
        • Piffaut M.C.
        • Daniel M.T.
        • Davi F.
        • Merle-Béral H.
        • Berger R.
        • Arock M.
        Identical abnormality of the short arm of chromosome 18 in two Philadelphia-positive chronic myelocytic leukemia patients with erythroblastic transformation, resulting in duplication of BCR/ABL1 fusion.
        Cancer Genet Cytogenet. 2002; 138: 22-26
      1. Mitelman F, Johansson B, Mertens F, editors. Mitelman database of chromosome aberrations in cancer [Internet]. Updated February 2005. Available from http://cgap.nci.nih.gov/Chromosomes/Mitelman.