title: c-MYC Amplification in Acute Myelogenous Leukemia Evolving from Double Minutes (dmins) to Homogeneously Staining Region (hsr).
abstract: A bone marrow biopsy of a 68-year-old woman revealed 59% blasts and immature monocytes, consistent with acute myeloid leukemia (AML) with monocytic features. Occasional hypolobated megakaryocytes and decreased iron stores were also present. A peripheral blood sample showed 7% blasts in addition to monocytosis, macrocytic anemia and thrombocytopenia. Molecular testing was negative for FLT3-ITD, NPM1 and CEBPA. Fluorescence in situ hybridization (FISH) probes were negative for t(8;21), t(15;17), inversion 16 and 11q23 rearrangements. The karyotype was 46,XX,del(20)(q11.2q13.1),~50dmin[3]/47,idem,+4[13]/47,idem,+22[2]/46,XX[2]. FISH confirmed that the double minutes were c-MYC positive with cryptic deletion of the c-MYC FISH signal on one of the chromosome 8s. Two months post-diagnosis, 57% of our patient's cells were still positive for c-MYC amplification; however, by four months only 8% of cells were positive for c-MYC amplification. After seven months, the patient's karyotype had the 20q deletion, X chromosome loss and a ring chromosome that consisted of a homogeneously staining region (hsr) containing c-MYC amplification. This case demonstrates that gene amplification in the form of double minutes can transform into a more stable hsr.
authors.affiliation: Department of Pathology, 1 Medical Center Drive, Morgantown, West Virginia University, Morgantown, WV.
authors.forename: Farzaneh
authors.initials: F
authors.lastname: Sayedian
authors.affiliation: Department of Pathology, 1 Medical Center Drive, Morgantown, West Virginia University, Morgantown, WV.
authors.forename: Jamie R
authors.initials: JR
authors.lastname: Senft
authors.affiliation: Department of Pathology, 1 Medical Center Drive, Morgantown, West Virginia University, Morgantown, WV.
authors.forename: Michelle D
authors.initials: MD
authors.lastname: Spruill
authors.affiliation: Department of Pathology, 1 Medical Center Drive, Morgantown, West Virginia University, Morgantown, WV.
authors.forename: Sharon L
authors.initials: SL
authors.lastname: Wenger
authors.affiliation: Department of Pathology, 1 Medical Center Drive, Morgantown, West Virginia University, Morgantown, WV.
authors.forename: Jeffrey A
authors.initials: JA
authors.lastname: Vos