title: Extrachromosomal gene amplification in acute myeloid leukemia; characterization by metaphase analysis, comparative genomic hybridization, and semi-quantitative PCR.
abstract: A case of acute myeloid leukemia (M-3) with complex karyotypic aberrations and double minute (dmin) chromosomes is presented. The patient had no history of prior exposure to mutagenic or carcinogenic agents or of other malignancies. She died from CNS involvement six weeks after the initial diagnosis. We used comparative genomic hybridization to identify the amplified sequences presumed to represent the dmin of the leukemic cells; the tumor/normal ratios indicated increased signal intensity at 8q24. This localization prompted investigation by semi-quantitative PCR that revealed amplification of the MYC oncogene. The extent of chromosome aberrations and the oncogene amplification, both linked with poor prognosis, may relate to the rapid course of this patient's disease.
authors.affiliation: Department of Pathology, Wayne State University School of Medicine, Detroit, MI.
authors.forename: A N
authors.initials: AN
authors.lastname: Mohamed
authors.forename: J A
authors.initials: JA
authors.lastname: Macoska
authors.forename: A
authors.initials: A
authors.lastname: Kallioniemi
authors.forename: O P
authors.initials: OP
authors.lastname: Kallioniemi
authors.forename: F
authors.initials: F
authors.lastname: Waldman
authors.forename: V
authors.initials: V
authors.lastname: Ratanatharathorn
authors.forename: S R
authors.initials: SR
authors.lastname: Wolman
mesh_terms: D001483:Base Sequence; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D002874:Chromosome Mapping; D004273:DNA, Neoplasm / Q000032:analysis; D005260:Female; D005784:Gene Amplification; D016259:Genes, myc / Q000235:genetics; D005914:Globins / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D015473:Leukemia, Promyelocytic, Acute / Q000235:genetics*; D008875:Middle Aged; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D016271:Proto-Oncogene Proteins c-myc / Q000235:genetics; D014407:Tumor Cells, Cultured
chemical_list: D004273:DNA, Neoplasm; D016271:Proto-Oncogene Proteins c-myc; D005914:Globins