title: Concomitant and successive amplifications of MYC in APL-like leukemia.
abstract: A 61-year-old male patient presented with very high blood white cell count, left shift of granulocytes to blasts, as well as low hemoglobin and platelets. The bone marrow aspirate and biopsy were consistent with an acute myeloid leukemia (AML). Blasts presented with large azurophilic inclusions and prominent Auer rods resembling acute promyelocytic leukemia (APL). Cytogenetic analysis revealed a deletion 9p and double-minute chromosomes. Fluorescence in situ hybridization showed amplification of the MYC probe and the absence of a RARA rearrangement. The patient achieved complete morphologic and cytogenetic remission 1 month after allogenic transplant, but relapsed 1 month later. Cytogenetics showed MYC amplification as a homogeneously staining region inserted into the long arm of one chromosome 9 and as a ring structure. At least five other acute promyelocytic leukemia-like cases without translocation 15;17, but with double minutes, have been reported in the literature. Only one of these had no RARA rearrangement. This report presents a second patient with APL-like bone marrow morphology, absence of RARA rearrangement, and MYC amplification. In this case, the amplification happened in various concomitant or successive forms.
authors.affiliation: Department of Pathology and Laboratory Medicine, Vancouver General Hospital and University of British Columbia, Vancouver, BC, Canada. helene.bruyere@vch.ca
authors.forename: Hélène
authors.initials: H
authors.lastname: Bruyère
authors.forename: Heather
authors.initials: H
authors.lastname: Sutherland
authors.forename: Katherine
authors.initials: K
authors.lastname: Chipperfield
authors.forename: Monika
authors.initials: M
authors.lastname: Hudoba
mesh_terms: D005784:Gene Amplification; D015321:Gene Rearrangement; D016259:Genes, myc; D006801:Humans; D015473:Leukemia, Promyelocytic, Acute / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D018168:Receptors, Retinoic Acid / Q000235:genetics; D000072482:Retinoic Acid Receptor alpha
chemical_list: C000607071:RARA protein, human; D018168:Receptors, Retinoic Acid; D000072482:Retinoic Acid Receptor alpha