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- Title
High-resolution genome-wide array-based comparative genome hybridization reveals cryptic chromosome changes in AML and MDS cases with trisomy 8 as the sole cytogenetic aberration.
- Authors
Paulsson, K.; Heidenblad, M.; Strömbeck, B.; Staaf, J.; Jönsson, G.; Borg, Å.; Fioretos, T.; Johansson, B.
- Abstract
Although trisomy 8 as the sole chromosome aberration is the most common numerical abnormality in acute myeloid leukemia (AML) and myelodysplastic syndromes (MDS), little is known about its pathogenetic effects. Considering that +8 is a frequent secondary change in AML/MDS, cryptic – possibly primary – genetic aberrations may occur in cases with trisomy 8 as the apparently single anomaly. However, no such hidden anomalies have been reported. We performed a high-resolution genome-wide array-based comparative genome hybridization (array CGH) analysis of 10 AML/MDS cases with isolated +8, utilizing a 32K bacterial artificial chromosome array set, providing >98% coverage of the genome with a resolution of 100 kb. Array CGH revealed intrachromosomal imbalances, not corresponding to known genomic copy number polymorphisms, in 4/10 cases, comprising nine duplications and hemizygous deletions ranging in size from 0.5 to 2.2 Mb. A 1.8 Mb deletion at 7p14.1, which had occurred prior to the +8, was identified in MDS transforming to AML. Furthermore, a deletion including ETV6 was present in one case. The remaining seven imbalances involved more than 40 genes. The present results show that cryptic genetic abnormalities are frequent in trisomy 8-positive AML/MDS cases and that +8 as the sole cytogenetic aberration is not always the primary genetic event.Leukemia (2006) 20, 840–846. doi:10.1038/sj.leu.2404145; published online 23 February 2006
- Subjects
MYELOID leukemia; TRISOMY; CYTOGENETICS; COMPARATIVE genomic hybridization
- Publication
Leukemia (08876924), 2006, Vol 20, Issue 5, p840
- ISSN
0887-6924
- Publication type
Article
- DOI
10.1038/sj.leu.2404145