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.
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.
authors.affiliation: Institute of Hematology, The Chaim Sheba Medical Center, Tel Hashomer 52621, Israel.
authors.forename: Abraham
authors.initials: A
authors.lastname: Kneller
authors.forename: Ninette
authors.initials: N
authors.lastname: Cohen
authors.forename: Miriam
authors.initials: M
authors.lastname: Berkowicz
authors.forename: Malka
authors.initials: M
authors.lastname: Reichart
authors.forename: Esther
authors.initials: E
authors.lastname: Rosner
authors.forename: Maya
authors.initials: M
authors.lastname: Sokolovski
authors.forename: Arnon
authors.initials: A
authors.lastname: Nagler
authors.forename: Gideon
authors.initials: G
authors.lastname: Rechavi
authors.forename: Ninette
authors.initials: N
authors.lastname: Amariglio
authors.forename: Luba
authors.initials: L
authors.lastname: Trakhtenbrot
mesh_terms: D000328:Adult; D000971:Antineoplastic Combined Chemotherapy Protocols / Q000627:therapeutic use; D001761:Bleomycin / Q000627:therapeutic use; D002869:Chromosome Aberrations; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D003131:Combined Modality Therapy; D004317:Doxorubicin / Q000627:therapeutic use; D005260:Female; D016044:Fusion Proteins, bcr-abl / Q000235:genetics*; D006689:Hodgkin Disease / Q000188:drug therapy / Q000532:radiotherapy / Q000628:therapy*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007399:Interphase; D007621:Karyotyping; D008466:Mechlorethamine / Q000627:therapeutic use; D009190:Myelodysplastic Syndromes / Q000235:genetics*; D016609:Neoplasms, Second Primary / Q000235:genetics*; D010677:Philadelphia Chromosome; D011241:Prednisone / Q000627:therapeutic use; D011344:Procarbazine / Q000627:therapeutic use; D014747:Vinblastine / Q000627:therapeutic use; D014750:Vincristine / Q000627:therapeutic use
chemical_list: D001761:Bleomycin; D011344:Procarbazine; D008466:Mechlorethamine; D014750:Vincristine; D014747:Vinblastine; D004317:Doxorubicin; D016044:Fusion Proteins, bcr-abl; D011241:Prednisone