Systematic screening at diagnosis of -5/del(5)(q31), -7, or chromosome 8 aneuploidy by interphase fluorescence in situ hybridization in 110 acute myelocytic leukemia and high-risk myelodysplastic syndrome patients: concordances and discrepancies with conventional cytogenetics
Details
Serval ID
serval:BIB_FDA35EC20FB8
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Systematic screening at diagnosis of -5/del(5)(q31), -7, or chromosome 8 aneuploidy by interphase fluorescence in situ hybridization in 110 acute myelocytic leukemia and high-risk myelodysplastic syndrome patients: concordances and discrepancies with conventional cytogenetics
Journal
Cancer Genetics and Cytogenetics
ISSN
0165-4608 (Print)
Publication state
Published
Issued date
07/2004
Volume
152
Number
1
Pages
29-41
Notes
Comparative Study
Journal Article
Research Support, Non-U.S. Gov't --- Old month value: Jul 1
Journal Article
Research Support, Non-U.S. Gov't --- Old month value: Jul 1
Abstract
To assess the contribution of interphase fluorescence in situ hybridization (I-FISH) toward the detection of recurring unbalanced chromosomal anomalies at diagnosis, a systematic screening of -5/del(5)(q31), -7, and chromosome 8 aneuploidy was performed on 110 patients with acute myelocytic leukemia or high-risk myelodysplastic syndrome. We searched for monosomy 5/del(5q) by one-color I-FISH with a probe specific for the 5q31 region and for -7/8 by dual-color I-FISH with centromeric probes for chromosomes 7 and 8. Discrepancies between conventional cytogenetics (CC) and I-FISH were observed in 8 of the 110 patients (7.3%). For -5/del(5)(q31), a discordance was observed in two patients with complex abnormalities involving chromosome 5. Whereas no discordance was observed for -7, I-FISH detected a trisomy 7 unnoticed by CC in two cases. In six patients, I-FISH revealed a chromosome 8 aneuploidy not detected by CC. Our results illustrate that, when using this specific set of probes, I-FISH is of special interest for the detection of minor clones with chromosome 8 aneuploidy, breakpoint assessment, and sequence identification (markers). Also, to avoid misinterpretations, I-FISH should not be used alone at disease presentation, particularly in cases complex changes that have clearly established prognostic significance.
Keywords
Adolescent
Adult
Aged
*Aneuploidy
*Chromosome Deletion
Chromosomes, Human, Pair 5/*genetics
Chromosomes, Human, Pair 7/*genetics
Chromosomes, Human, Pair 8/*genetics
Cytogenetic Analysis
Female
Humans
In Situ Hybridization, Fluorescence
Interphase
Leukemia, Myelocytic, Acute/diagnosis/*genetics
Male
Middle Aged
Myelodysplastic Syndromes/diagnosis/*genetics
Trisomy
Pubmed
Web of science
Create date
25/01/2008 15:18
Last modification date
20/08/2019 17:28