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.
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.
Kneller
Abraham
A
Institute of Hematology, The Chaim Sheba Medical Center, Tel Hashomer 52621, Israel.
Cohen
Ninette
N
Berkowicz
Miriam
M
Reichart
Malka
M
Rosner
Esther
E
Sokolovski
Maya
M
Nagler
Arnon
A
Rechavi
Gideon
G
Amariglio
Ninette
N
Trakhtenbrot
Luba
L
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
D001761:Bleomycin; D011344:Procarbazine; D008466:Mechlorethamine; D014750:Vincristine; D014747:Vinblastine; D004317:Doxorubicin; D016044:Fusion Proteins, bcr-abl; D011241:Prednisone