title: Both NUP98/TOP1 and TOP1/NUP98 transcripts are detected in a de novo AML with t(11;20)(p15;q11).
abstract: The NUP98 gene is involved in several chromosomal abnormalities associated with acute leukemia. The recurrent t(11;20)(p15;q11) chromosomal translocation results in generation of the NUP98/TOP1 chimeric gene. This abnormality has been observed primarily in therapy-related leukemias, and TOP1/NUP98 transcripts have not been demonstrated. We describe a case of de novo acute myeloid leukemia with t(11;20)(p15;q11), with no known history of exposure to chemicals. The translocation occurred in intron 13 of NUP98 and intron 7 of TOP1, as in the three previously reported cases. The breakpoint in NUP98 was exactly the same as that found in a previously reported case. In addition, a reciprocal TOP1/NUP98 transcript was detected for the first time in our patient.
authors.affiliation: Division of Hematology and Oncology, Aoto Hospital, Jikei University School of Medicine, Tokyo, Japan.
authors.forename: Satsuki
authors.initials: S
authors.lastname: Iwase
authors.forename: Nobutake
authors.initials: N
authors.lastname: Akiyama
authors.forename: Tetsuaki
authors.initials: T
authors.lastname: Sekikawa
authors.forename: Shinobu
authors.initials: S
authors.lastname: Saito
authors.forename: Yasuhiro
authors.initials: Y
authors.lastname: Arakawa
authors.forename: Junko
authors.initials: J
authors.lastname: Horiguchi-Yamada
authors.forename: Hisashi
authors.initials: H
authors.lastname: Yamada
mesh_terms: D000208:Acute Disease; D001483:Base Sequence / Q000235:genetics; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D002890:Chromosomes, Human, Pair 20 / Q000235:genetics*; D004264:DNA Topoisomerases, Type I / Q000235:genetics*; D004273:DNA, Neoplasm / Q000235:genetics; D005260:Female; D006801:Humans; D007951:Leukemia, Myeloid / Q000235:genetics*; D008875:Middle Aged; D008969:Molecular Sequence Data; D028861:Nuclear Pore Complex Proteins / Q000235:genetics*; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D014178:Translocation, Genetic / Q000235:genetics*
chemical_list: D004273:DNA, Neoplasm; C473083:NUP98-TOP1 fusion protein, human; D028861:Nuclear Pore Complex Proteins; D015514:Oncogene Proteins, Fusion; C093350:nuclear pore complex protein 98; D004264:DNA Topoisomerases, Type I