title: Amplification on double-minute chromosomes and partial-tandem duplication of the MLL gene in leukemic cells of a patient with acute myelogenous leukemia.
abstract: Partial-tandem duplication (PTD) of an internal portion of MLL occurs in some cases of acute myelogenous leukemia (AML) with trisomy 11 or a normal karyotype. This type of MLL rearrangement may be transcribed into an mRNA species that is capable of encoding a partially duplicated protein associated with leukemogenesis. However, although several kinds of oncogenes, especially MYC, are often amplified on double-minute chromosomes (dmins) in hematological malignancies, no amplification of MLL has been reported in AML. Here, we report the first documented case of a patient with AML whose leukemic cells exhibited amplification of MLL on dmins. Furthermore, in this patient, MLL was rearranged in a PTD manner, with in-frame fusion of exons 2 and 6.
authors.affiliation: Laboratories of Genome Medicine, Institute of Medical Science, University of Tokyo, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Ariyama
authors.forename: Y
authors.initials: Y
authors.lastname: Fukuda
authors.forename: Y
authors.initials: Y
authors.lastname: Okuno
authors.forename: M
authors.initials: M
authors.lastname: Seto
authors.forename: K
authors.initials: K
authors.lastname: Date
authors.forename: T
authors.initials: T
authors.lastname: Abe
authors.forename: Y
authors.initials: Y
authors.lastname: Nakamura
authors.forename: J
authors.initials: J
authors.lastname: Inazawa
mesh_terms: D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002880:Chromosomes, Human, Pair 11; D020440:Gene Duplication; D006801:Humans; D007621:Karyotyping; D015470:Leukemia, Myeloid, Acute / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D020080:Tandem Repeat Sequences / Q000235:genetics*; D014314:Trisomy / Q000235:genetics*