title: Identification of a chromosomal breakpoint and detection of a novel form of an MLL-AF17 fusion transcript in acute monocytic leukemia with t(11;17)(q23;q21).
abstract: More than 40 genes have been reported as translocation partners of the mixed lineage leukemia gene (MLL) in hematologic malignancies. AF17 was identified earlier than most other MLL translocation partners. On the other hand, there is only 1 report of an MLL-AF17 fusion transcript in acute myeloid leukemia (AML). Here we describe a 40-year-old man with a diagnosis of AML involving t(11;17)(q23;q21). We identified a chromosomal breakpoint for t(11;17)(q23;q21) at MLL intron 6 and AF17 intron 8. Although the previously reported form of the MLL-AF17 fusion transcript was not detected by reverse transcriptase-polymerase chain reaction (PCR) analysis, a novel form of an MLL-AF17 fusion transcript joining MLL exon 6 to AF17 exon 9 was detected by complementary DNA panhandle PCR. The fact that 2 forms of MLL-AF17 retain the leucine zipper domain of AF17 suggests that the dimerization domain of AF17 is critical for leukemogenesis by the MLL-AF17 fusion gene.
authors.affiliation: Clinical and Experimental Hematology, Major of Advanced Biomedical Applications, Graduate School of Comprehensive, Human Sciences, University of Tsukuba, Ibaraki, Japan. suzukazu@md.tsukuba.ac.jp
authors.forename: Kazumi
authors.initials: K
authors.lastname: Suzukawa
authors.forename: Seiichi
authors.initials: S
authors.lastname: Shimizu
authors.forename: Noriko
authors.initials: N
authors.lastname: Nemoto
authors.forename: Naoko
authors.initials: N
authors.lastname: Takei
authors.forename: Tomohiko
authors.initials: T
authors.lastname: Taki
authors.forename: Toshiro
authors.initials: T
authors.lastname: Nagasawa
mesh_terms: D000328:Adult; D002471:Cell Transformation, Neoplastic / Q000235:genetics; D019457:Chromosome Breakage; D002880:Chromosomes, Human, Pair 11; D002886:Chromosomes, Human, Pair 17; D004268:DNA-Binding Proteins / Q000235:genetics*; D011495:Histone-Lysine N-Methyltransferase; D006801:Humans; D016350:Leucine Zippers; D007948:Leukemia, Monocytic, Acute / Q000235:genetics*; D008297:Male; D051788:Myeloid-Lymphoid Leukemia Protein / Q000235:genetics*; D009363:Neoplasm Proteins / Q000235:genetics*; D015514:Oncogene Proteins, Fusion / Q000235:genetics* / Q000276:immunology; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014178:Translocation, Genetic
chemical_list: D004268:DNA-Binding Proteins; C497422:KMT2A protein, human; C506668:MLL-AF17 fusion protein, human; C096106:MLLT6 protein, human; D009363:Neoplasm Proteins; D015514:Oncogene Proteins, Fusion; D051788:Myeloid-Lymphoid Leukemia Protein; D011495:Histone-Lysine N-Methyltransferase