title: MLL-CBP fusion transcript in a therapy-related acute myeloid leukemia with the t(11;16)(q23;p13) which developed in an acute lymphoblastic leukemia patient with Fanconi anemia.
abstract: We describe a boy with Fanconi anemia (FA) who developed acute lymphoblastic leukemia (ALL) (FAB-LI) followed by acute myeloid leukemia (AML) (FAB-M5) at relapse. The patient was diagnosed with early pre-B-cell ALL without preceding aplastic anemia and was treated with ALL-oriented chemotherapy which included doxorubicin (a total dose of 140 mg/m(2) administered), which is a topoisomerase II inhibitor. Complete remission was obtained, but after 38 weeks AML developed. The karyotype of ALL cells at diagnosis showed 46,XY, and that of AML cells at relapse was 46,XY, t(11;16)(q23;p13). An MLL gene rearrangement and MLL-CBP chimeric mRNA were found in AML, but not in ALL. A diagnosis of FA was confirmed by an increased number of chromosomal breaks and rearrangements in peripheral blood lymphocytes cultured with mitogen in the presence of mitomycin C. We conclude that this FA patient developed ALL followed by a therapy-related t(11;16)-AML resulting in an MLL-CBP fusion. Further examination of such patients would shed light on leukemogenesis in FA patients. Genes Chromosomes Cancer 27:264-269, 2000.
authors.affiliation: Division of Hematology, Department of Pediatrics, Dokkyo University School of Medicine, Tochigi, Japan. fwiw4736@mb.infoweb.ne.jp
authors.forename: K
authors.initials: K
authors.lastname: Sugita
authors.forename: T
authors.initials: T
authors.lastname: Taki
authors.forename: Y
authors.initials: Y
authors.lastname: Hayashi
authors.forename: H
authors.initials: H
authors.lastname: Shimaoka
authors.forename: H
authors.initials: H
authors.lastname: Kumazaki
authors.forename: H
authors.initials: H
authors.lastname: Inoue
authors.forename: Y
authors.initials: Y
authors.lastname: Konno
authors.forename: M
authors.initials: M
authors.lastname: Taniwaki
authors.forename: H
authors.initials: H
authors.lastname: Kurosawa
authors.forename: M
authors.initials: M
authors.lastname: Eguchi
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D050882:CREB-Binding Protein; D002648:Child; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D005199:Fanconi Anemia / Q000235:genetics* / Q000473:pathology; D011495:Histone-Lysine N-Methyltransferase; D006801:Humans; D007621:Karyotyping; D007948:Leukemia, Monocytic, Acute / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D051788:Myeloid-Lymphoid Leukemia Protein; D016609:Neoplasms, Second Primary / Q000235:genetics* / Q000473:pathology; D009687:Nuclear Proteins / Q000235:genetics*; D010641:Phenotype; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000235:genetics* / Q000473:pathology; D011519:Proto-Oncogenes; D015534:Trans-Activators / Q000235:genetics*; D014157:Transcription Factors; D014178:Translocation, Genetic / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins; C497422:KMT2A protein, human; D009687:Nuclear Proteins; D015534:Trans-Activators; D014157:Transcription Factors; D051788:Myeloid-Lymphoid Leukemia Protein; D011495:Histone-Lysine N-Methyltransferase; D050882:CREB-Binding Protein; C494363:CREBBP protein, human