title: Additional t(11;17)(q23;q21) in a patient with Philadelphia-positive mixed lineage antigen-expressing leukemia.
abstract: We describe very uncommon phenotypic and cytogenetic findings in a 40-year-old female with blast phase of Philadelphia chromosome (Ph)-positive CML. In addition to the t(9;22)(q34;q11) that was detected in all metaphases, a t(11;17)(q23;q21) was identified in 15 of 20 metaphases. Reverse transcription-polymerase chain reaction showed the major and minor bcr/abl fusion transcripts in the cells from a bone marrow (BM) sample. Fluorescence in situ hybridization (FISH) analysis also showed that fusion signals of the bcr and abl probes were found in 95% of blastic cells and in 64% of neutrophils. MLL gene rearrangement was also detected in some blastic cells but not in neutrophils by FISH analysis. Phenotypically, blastic cells expressed mixed lineage antigens such as CD34, CD33, CD13, CD19, CD7, and CD41. Immunogenotypically, some population of BM cells showed monoclonal rearrangements of immunoglobulin heavy chain and T-cell receptor gamma chain genes by Southern blot analysis. Clinical course was aggressive, and therapy was poorly tolerated. Such findings seem to support an association between Ph and an abnormality of 11q23 with poor prognosis, and suggest that the expression of both abnormal genes may be related to this mixed lineage antigen-expressing leukemia.
authors.affiliation: The Second Department of Internal Medicine, Mie University School of Medicine, 2-174 Edobashi, Tsu, 514-8507, Mie, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Nishii
authors.forename: E
authors.initials: E
authors.lastname: Usui
authors.forename: M
authors.initials: M
authors.lastname: Sakakura
authors.forename: E
authors.initials: E
authors.lastname: Miyata
authors.forename: S A
authors.initials: SA
authors.lastname: Ridge
authors.forename: A M
authors.initials: AM
authors.lastname: Ford
authors.forename: M
authors.initials: M
authors.lastname: Masuya
authors.forename: F
authors.initials: F
authors.lastname: Chen
authors.forename: H
authors.initials: H
authors.lastname: Mitani
authors.forename: M
authors.initials: M
authors.lastname: Yamaguchi
authors.forename: N
authors.initials: N
authors.lastname: Katayama
authors.forename: K
authors.initials: K
authors.lastname: Kita
authors.forename: H
authors.initials: H
authors.lastname: Shiku
mesh_terms: D000328:Adult; D000941:Antigens / Q000276:immunology*; D000971:Antineoplastic Combined Chemotherapy Protocols / Q000627:therapeutic use; D015139:Blotting, Southern; D016026:Bone Marrow Transplantation; D002880:Chromosomes, Human, Pair 11; D002886:Chromosomes, Human, Pair 17; D003131:Combined Modality Therapy; D004268:DNA-Binding Proteins / Q000235:genetics; D005260:Female; D016044:Fusion Proteins, bcr-abl / Q000235:genetics; D005838:Genotype; D011495:Histone-Lysine N-Methyltransferase; D006801:Humans; D016130:Immunophenotyping; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D015464:Leukemia, Myelogenous, Chronic, BCR-ABL Positive / Q000235:genetics* / Q000276:immunology / Q000628:therapy; D051788:Myeloid-Lymphoid Leukemia Protein; D011519:Proto-Oncogenes; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014157:Transcription Factors; D014178:Translocation, Genetic
chemical_list: D000941:Antigens; D004268:DNA-Binding Proteins; C497422:KMT2A protein, human; D014157:Transcription Factors; D051788:Myeloid-Lymphoid Leukemia Protein; D011495:Histone-Lysine N-Methyltransferase; D016044:Fusion Proteins, bcr-abl