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Single nucleotide polymorphism array-based karyotyping in acute myeloid leukemia or myelodysplastic syndrome with trisomy 8 as the sole chromosomal abnormality.
- Source :
-
Acta haematologica [Acta Haematol] 2013; Vol. 129 (3), pp. 154-8. Date of Electronic Publication: 2012 Nov 30. - Publication Year :
- 2013
-
Abstract
- The clinical heterogeneity of patients with acute myeloid leukemia (AML) or myelodysplastic syndrome (MDS) with trisomy 8 as the sole abnormality may result from cytogenetically undetectable genetic changes. The purpose of this study was to identify hidden genomic aberrations not detected by metaphase cytogenetics (MC) using high-resolution single nucleotide polymorphism array (SNP-A)-based karyotyping in AML/MDS patients with a sole trisomy 8. The study group included 8 patients (3 AML and 5 MDS) and array-based karyotyping was done using whole-genome SNP-A (SNP 6.0 and SNP 2.7M). By SNP-A, additional genomic aberrations not detected by MC were identified in 2 patients: 1 AML patient exhibited a copy-neutral loss of heterozygosity (CN-LOH) of 3q21.1-q29 and 11q13.1-q25 and the other patient with MDS (refractory cytopenia with unilineage dysplasia) had CN-LOH of 2p25.3-p15. In particular, the latter patient progressed to AML 18 months after the diagnosis. In 3 patients, aberrations in addition to trisomy 8 were not identified by SNP-A. In the remaining 3 patients, SNP-A could not detect trisomy 8, while trisomy 8 was found in 25-67% of metaphase cells by MC. This study suggests that additional genomic aberrations may in fact be present even in cases of trisomy 8 as sole abnormality by MC, and SNP-A could be a useful karyotyping tool to identify hidden aberrations such as CN-LOH.<br /> (Copyright © 2012 S. Karger AG, Basel.)
- Subjects :
- Adult
Aged, 80 and over
Chromosomes, Human, Pair 8 genetics
Female
Humans
Leukemia, Myeloid, Acute diagnosis
Loss of Heterozygosity
Male
Middle Aged
Myelodysplastic Syndromes diagnosis
Retrospective Studies
Abnormal Karyotype
Leukemia, Myeloid, Acute genetics
Myelodysplastic Syndromes genetics
Polymorphism, Single Nucleotide
Trisomy genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1421-9662
- Volume :
- 129
- Issue :
- 3
- Database :
- MEDLINE
- Journal :
- Acta haematologica
- Publication Type :
- Academic Journal
- Accession number :
- 23208021
- Full Text :
- https://doi.org/10.1159/000343420