title: Molecular cloning of t(2;7)(p24.3;p14.2), a novel chromosomal translocation in myelodysplastic syndrome-derived acute myeloid leukemia.
abstract: In this study, we report the molecular structure of the breakpoint region in a new chromosomal translocation, t(2;7)(p24.3;p14.2), in a case of acute myeloid leukemia transformed from myelodysplastic syndrome (MDS). An extensive fluorescence in situ hybridization (FISH) analysis showed that NAG (2p24.3) and ELMO1 (7p14.2) were involved at the breakpoints of t(2;7)(p24.3;p14.2). Furthermore, we detected a novel chimeric transcript consisting of NAG and ELMO1. Interestingly, this transcript encoded a truncated molecular form of 3'ELMO1 as the result of a frameshift caused by the chromosomal translocation. Although this study does not provide direct evidence that a defect in NAG-ELMO1 plays a role in the pathogenesis or the leukemic change in MDS, it does suggest that defects in NAG-ELMO1 potentially contributed to the leukemic progression in this case.
authors.affiliation: Division of Hematology, Showa University Fujigaoka Hospital, Yokohama, Japan.
authors.forename: Kazuhiro
authors.initials: K
authors.lastname: Fujita
authors.forename: Masashi
authors.initials: M
authors.lastname: Sanada
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Harada
authors.forename: Hiraku
authors.initials: H
authors.lastname: Mori
authors.forename: Haruo
authors.initials: H
authors.lastname: Niikura
authors.forename: Mitsuhiro
authors.initials: M
authors.lastname: Omine
authors.forename: Johji
authors.initials: J
authors.lastname: Inazawa
authors.forename: Issei
authors.initials: I
authors.lastname: Imoto
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics; D000595:Amino Acid Sequence; D019457:Chromosome Breakage; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D003001:Cloning, Molecular; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D015479:Leukemia, Myelomonocytic, Acute / Q000150:complications / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009190:Myelodysplastic Syndromes / Q000150:complications / Q000235:genetics* / Q000473:pathology; D009363:Neoplasm Proteins / Q000235:genetics; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014178:Translocation, Genetic
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C465214:ELMO1 protein, human; C117339:NBAS protein, human; D009363:Neoplasm Proteins; D012333:RNA, Messenger