Amplification of ERBB2, RARA, and TOP2A genes in a myelodysplastic syndrome transforming to acute myeloid leukemia

J I Martín-Subero; L Harder; S Gesk; R Schoch; F J Novo; W Grote; M J Calasanz; B Schlegelberger; R Siebert

doi:10.1016/s0165-4608(00)00431-3

Amplification of ERBB2, RARA, and TOP2A genes in a myelodysplastic syndrome transforming to acute myeloid leukemia

Cancer Genet Cytogenet. 2001 Jun;127(2):174-6. doi: 10.1016/s0165-4608(00)00431-3.

Authors

J I Martín-Subero¹, L Harder, S Gesk, R Schoch, F J Novo, W Grote, M J Calasanz, B Schlegelberger, R Siebert

Affiliation

¹ Institute of Human Genetics, University Hospital Kiel, Schwanenweg 24, 24105 Kiel, Germany.

PMID: 11425459
DOI: 10.1016/s0165-4608(00)00431-3

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Antigens, Neoplasm / genetics
Antineoplastic Combined Chemotherapy Protocols / administration & dosage
Antineoplastic Combined Chemotherapy Protocols / therapeutic use
Cell Transformation, Neoplastic / genetics
Chromosome Aberrations*
Chromosome Mapping
Chromosomes, Human, Pair 17*
Chromosomes, Human, Pair 9*
Cytarabine / administration & dosage
DNA Topoisomerases, Type II* / genetics*
DNA-Binding Proteins
Daunorubicin / administration & dosage
Female
Genes, erbB-2*
Humans
In Situ Hybridization, Fluorescence
Isoenzymes / genetics*
Karyotyping
Leukemia, Myelomonocytic, Acute / drug therapy
Leukemia, Myelomonocytic, Acute / genetics*
Leukemia, Myelomonocytic, Acute / pathology
Metaphase
Middle Aged
Myelodysplastic Syndromes / genetics*
Myelodysplastic Syndromes / pathology
Poly-ADP-Ribose Binding Proteins
Receptors, Retinoic Acid / genetics
Retinoic Acid Receptor alpha
Thioguanine / administration & dosage

Substances

Antigens, Neoplasm
DNA-Binding Proteins
Isoenzymes
Poly-ADP-Ribose Binding Proteins
RARA protein, human
Receptors, Retinoic Acid
Retinoic Acid Receptor alpha
Cytarabine
DNA Topoisomerases, Type II
TOP2A protein, human
Thioguanine
Daunorubicin

Supplementary concepts

DAT protocol 1