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.
Cancer Genet Cytogenet
; 152(1): 29-41, 2004 Jul 01.
Article
em En
| MEDLINE
| ID: mdl-15193439
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.
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Coleções:
01-internacional
Temas:
Geral
/
Tipos_de_cancer
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Leucemia
Base de dados:
MEDLINE
Assunto principal:
Síndromes Mielodisplásicas
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Cromossomos Humanos Par 5
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Cromossomos Humanos Par 7
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Cromossomos Humanos Par 8
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Leucemia Mieloide Aguda
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Deleção Cromossômica
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Aneuploidia
Tipo de estudo:
Diagnostic_studies
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Etiology_studies
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Prognostic_studies
/
Risk_factors_studies
/
Screening_studies
Limite:
Adolescent
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Adult
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Aged
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Female
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Humans
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Male
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Middle aged
Idioma:
En
Revista:
Cancer Genet Cytogenet
Ano de publicação:
2004
Tipo de documento:
Article
País de afiliação:
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