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  • Title: Acquisition of a Ph chromosome with minor BCR/ABL fusion in treatment-related myelodysplastic syndrome with chromosome 7 abnormalities in a patient treated for Hodgkin disease.
    Author: Kneller A, Cohen N, Berkowicz M, Reichart M, Rosner E, Sokolovski M, Nagler A, Rechavi G, Amariglio N, Trakhtenbrot L.
    Journal: Cancer Genet Cytogenet; 2005 May; 159(1):58-62. PubMed ID: 15860359.
    Abstract:
    The patient reported in this study originally had Hodgkin disease that was treated heavily with multiple courses of combined chemotherapy and radiotherapy. Secondary myelodysplastic syndrome (MDS) with a complex karyotype with monosomy 7, deletion 7q31, and double deletion 7q31 developed 8 years later. During the course of the disease, conventional cytogenetics and interphase FISH (I-FISH) analysis detected a Ph chromosome and BCR/ABL fusion with mBCR rearrangement. Using a multiparametric cell scanning system that enables combined analysis with probes specific for 7/7q- and BCR/ABL in a single cell, we were able to demonstrate the presence of the BCR/ABL fusion only in cells with monosomy of chromosome 7 and 7q31 deletion, but not in cells with a normal chromosome 7 or with a double deletion of 7q31. We propose two possible models that may explain the appearance of the BCR/ABL fusion in the pre-existing treatment-related MDS clones characterized by chromosome 7 rearrangements.
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