title: Amplification of ERBB2, RARA, and TOP2A genes in a myelodysplastic syndrome transforming to acute myeloid leukemia.
abstract: A patient is described with myelodysplastic syndrome (MDS) progressing to acute myeloid leukemia (AML) FAB M4. Cytogenetic analysis revealed an unusual rearrangement between chromosomes 9 and 17, leading to a dicentric chromosome with an insertion of material of unknown origin between both chromosomes. By fluorescence in situ hybridization (FISH), the insertion was shown to be an amplification of part of 17q, involving ERBB2, RARA, and TOP2A genes. The median copy number of ERBB2, RARA, and TOP2A genes in the tumor cells was six (range: 4--10). Only one copy of the MPO gene at 17q21.3 was detected, suggesting a deletion of the telomeric part of 17q. To our knowledge, this is the first report of a 17q amplification in AML.
authors: Institute of Human Genetics, University Hospital Kiel, Schwanenweg 24, 24105 Kiel, Germany.
authors: J I
authors: JI
authors: Martín-Subero
authors: L
authors: L
authors: Harder
authors: S
authors: S
authors: Gesk
authors: R
authors: R
authors: Schoch
authors: F J
authors: FJ
authors: Novo
authors: W
authors: W
authors: Grote
authors: M J
authors: MJ
authors: Calasanz
authors: B
authors: B
authors: Schlegelberger
authors: R
authors: R
authors: Siebert
mesh_terms: D000951:Antigens, Neoplasm / Q000235:genetics; D000971:Antineoplastic Combined Chemotherapy Protocols / Q000008:administration & dosage / Q000627:therapeutic use; D002471:Cell Transformation, Neoplastic / Q000235:genetics; D002869:Chromosome Aberrations; D002874:Chromosome Mapping; D002886:Chromosomes, Human, Pair 17; D002899:Chromosomes, Human, Pair 9; D003561:Cytarabine / Q000008:administration & dosage; D004250:DNA Topoisomerases, Type II / Q000235:genetics*; D004268:DNA-Binding Proteins; D003630:Daunorubicin / Q000008:administration & dosage; D005260:Female; D018734:Genes, erbB-2; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007527:Isoenzymes / Q000235:genetics*; D007621:Karyotyping; D015479:Leukemia, Myelomonocytic, Acute / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology; D008677:Metaphase; D008875:Middle Aged; D009190:Myelodysplastic Syndromes / Q000235:genetics* / Q000473:pathology; D000075223:Poly-ADP-Ribose Binding Proteins; D018168:Receptors, Retinoic Acid / Q000235:genetics; D000072482:Retinoic Acid Receptor alpha; D013866:Thioguanine / Q000008:administration & dosage
chemical_list: D000951:Antigens, Neoplasm; D004268:DNA-Binding Proteins; D007527:Isoenzymes; D000075223:Poly-ADP-Ribose Binding Proteins; C000607071:RARA protein, human; D018168:Receptors, Retinoic Acid; D000072482:Retinoic Acid Receptor alpha; D003561:Cytarabine; D004250:DNA Topoisomerases, Type II; C000618811:TOP2A protein, human; D013866:Thioguanine; D003630:Daunorubicin