PMID- 11425459 OWN - NLM STAT- MEDLINE DCOM- 20010719 LR - 20190816 IS - 0165-4608 (Print) IS - 0165-4608 (Linking) VI - 127 IP - 2 DP - 2001 Jun TI - Amplification of ERBB2, RARA, and TOP2A genes in a myelodysplastic syndrome transforming to acute myeloid leukemia. PG - 174-6 AB - 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. FAU - Martin-Subero, J I AU - Martin-Subero JI AD - Institute of Human Genetics, University Hospital Kiel, Schwanenweg 24, 24105 Kiel, Germany. FAU - Harder, L AU - Harder L FAU - Gesk, S AU - Gesk S FAU - Schoch, R AU - Schoch R FAU - Novo, F J AU - Novo FJ FAU - Grote, W AU - Grote W FAU - Calasanz, M J AU - Calasanz MJ FAU - Schlegelberger, B AU - Schlegelberger B FAU - Siebert, R AU - Siebert R LA - eng PT - Case Reports PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - United States TA - Cancer Genet Cytogenet JT - Cancer genetics and cytogenetics JID - 7909240 RN - 0 (Antigens, Neoplasm) RN - 0 (DNA-Binding Proteins) RN - 0 (Isoenzymes) RN - 0 (Poly-ADP-Ribose Binding Proteins) RN - 0 (RARA protein, human) RN - 0 (Receptors, Retinoic Acid) RN - 0 (Retinoic Acid Receptor alpha) RN - 04079A1RDZ (Cytarabine) RN - EC 5.99.1.3 (DNA Topoisomerases, Type II) RN - EC 5.99.1.3 (TOP2A protein, human) RN - FTK8U1GZNX (Thioguanine) RN - ZS7284E0ZP (Daunorubicin) RN - DAT protocol 1 SB - IM MH - Antigens, Neoplasm/genetics MH - Antineoplastic Combined Chemotherapy Protocols/administration & dosage/therapeutic use MH - Cell Transformation, Neoplastic/genetics MH - *Chromosome Aberrations MH - Chromosome Mapping MH - *Chromosomes, Human, Pair 17 MH - *Chromosomes, Human, Pair 9 MH - Cytarabine/administration & dosage MH - *DNA Topoisomerases, Type II/*genetics MH - DNA-Binding Proteins MH - Daunorubicin/administration & dosage MH - Female MH - *Genes, erbB-2 MH - Humans MH - In Situ Hybridization, Fluorescence MH - Isoenzymes/*genetics MH - Karyotyping MH - Leukemia, Myelomonocytic, Acute/drug therapy/*genetics/pathology MH - Metaphase MH - Middle Aged MH - Myelodysplastic Syndromes/*genetics/pathology MH - Poly-ADP-Ribose Binding Proteins MH - Receptors, Retinoic Acid/genetics MH - Retinoic Acid Receptor alpha MH - Thioguanine/administration & dosage EDAT- 2001/06/27 10:00 MHDA- 2001/07/20 10:01 CRDT- 2001/06/27 10:00 PHST- 2001/06/27 10:00 [pubmed] PHST- 2001/07/20 10:01 [medline] PHST- 2001/06/27 10:00 [entrez] AID - S0165-4608(00)00431-3 [pii] AID - 10.1016/s0165-4608(00)00431-3 [doi] PST - ppublish SO - Cancer Genet Cytogenet. 2001 Jun;127(2):174-6. doi: 10.1016/s0165-4608(00)00431-3.