title: A complex karyotype, including a three-way translocation generating a NUP98-HOXD13 transcript, in an infant with acute myeloid leukemia.
abstract: We report the case of an infant with acute myeloblastic leukemia who had the abnormal karyotype 46,XX,t(2;11;9)(q31;p15;q22),t(6;11;15)(q21;q23;q22),t(8;10)(q13;q22). At relapse, a different three-way translocation emerged. Fluorescence in situ hybridization and a reverse transcription-polymerase chain reaction assay detected the NUP98-HOXD13 fusion gene in bone marrow cells of the patient at diagnosis and at relapse. Sequence analysis showed that exon 12 of NUP98 was fused in-frame with exon 2 of HOXD13. The patient had neither a rearrangement of the MLL gene nor aberrations for FLT3, KIT, NRAS, KRAS, or PTPN11. The NUP98-HOXD13 fusion transcript created by t(2;11;9)(q31;p15;q22) may play an important role in the leukemogenesis in this case.
authors.affiliation: Department of Laboratory Medicine, Shinshu University Hospital, Matsumoto, Japan.
authors.forename: Eiko
authors.initials: E
authors.lastname: Hidaka
authors.forename: Miyuki
authors.initials: M
authors.lastname: Tanaka
authors.forename: Kazuyuki
authors.initials: K
authors.lastname: Matsuda
authors.forename: Masayo
authors.initials: M
authors.lastname: Ishikawa-Matsumura
authors.forename: Kazuyoshi
authors.initials: K
authors.lastname: Yamauchi
authors.forename: Kenji
authors.initials: K
authors.lastname: Sano
authors.forename: Takayuki
authors.initials: T
authors.lastname: Honda
authors.forename: Keiko
authors.initials: K
authors.lastname: Wakui
authors.forename: Ryu
authors.initials: R
authors.lastname: Yanagisawa
authors.forename: Yozo
authors.initials: Y
authors.lastname: Nakazawa
authors.forename: Kazuo
authors.initials: K
authors.lastname: Sakashita
authors.forename: Masaaki
authors.initials: M
authors.lastname: Shiohara
authors.forename: Eizaburo
authors.initials: E
authors.lastname: Ishii
authors.forename: Kenichi
authors.initials: K
authors.lastname: Koike
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D002879:Chromosomes, Human, Pair 10; D002880:Chromosomes, Human, Pair 11; D002884:Chromosomes, Human, Pair 15; D002889:Chromosomes, Human, Pair 2; D002896:Chromosomes, Human, Pair 6; D002898:Chromosomes, Human, Pair 8; D002899:Chromosomes, Human, Pair 9; D005260:Female; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007223:Infant; D007621:Karyotyping; D015470:Leukemia, Myeloid, Acute / Q000235:genetics*; D008969:Molecular Sequence Data; D028861:Nuclear Pore Complex Proteins / Q000235:genetics*; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D014178:Translocation, Genetic
chemical_list: D018398:Homeodomain Proteins; C452438:NUP98-HOXA13 fusion protein, human; D028861:Nuclear Pore Complex Proteins; D015514:Oncogene Proteins, Fusion