Genetic diagnosis by comparative genomic hybridization in adult de novo acute myelocytic leukemia
| Autor: | Jorge Sierra, Salut Brunet, Jose A. Martinez-Climent, Maria Dolors Coll, Jesús M. Hernández, Marta Bernués, Francesc Solé, Francisca Fuentes, Anna Aventin, J. L. M. Duarte, Isabel Granada, Anna Carrió, Montserrat Teixidó, Sı́lvia Casas, Teresa Vallespi |
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| Rok vydání: | 2004 |
| Předmět: |
Adult
Male Cancer Research medicine.medical_specialty Adolescent Trisomy Biology Chromosome regions Genetics medicine Chromosomes Human Humans Molecular Biology Metaphase In Situ Hybridization Fluorescence Sequence Deletion Anemia Refractory with Excess of Blasts Cytogenetics Nucleic Acid Hybridization Chromosome Karyotype Middle Aged medicine.disease Molecular biology Leukemia Leukemia Myeloid Karyotyping Acute Disease Female Chromosome Deletion Comparative genomic hybridization |
| Zdroj: | Cancer Genetics and Cytogenetics. 153:16-25 |
| ISSN: | 0165-4608 |
| Popis: | A total of 127 adult de novo acute myelocytic leukemia (AML) patients were analyzed by comparative genomic hybridization (CGH) at diagnosis. Conventional cytogenetic analysis (CCA) showed a normal karyotype in 45 cases and an abnormal karyotype in 56 cases; in the remaining cases, CCA either failed to yield sufficient metaphase cells (19/26) or was not done (7/26). Abnormal CGH profiles were identified in 39 patients (30.7%). DNA copy number losses (61%) were high compared to gains (39%), whereas partial chromosome changes (76%) were more common than whole chromosomes changes (24%). Recurrent losses were detected on chromosomes 7, 5q (comprising bands 5q15 to 5q33), 7q (7q32 approximately q36), 16q (16q13 approximately q21), and 17p, and gains were detected on chromosomes 8, 22, and 3q (comprising bands 3q26.1 approximately q27). Furthermore, distinct amplifications were identified in chromosome regions 21q, 13q12 approximately q13, and 13q21.1. No cryptic recurrent chromosomal imbalances were identified by CGH in cases with normal karyotypes. The concordance between CGH results and CCA was 72.5%. In the remaining cases, CGH gave additional information compared to CCA (20%) and partially failed to identify the alterations previously detected by CCA (7.5%). The majority of discrepancies arose from the limitations of the CGH technique, such as insensitivity to detect unbalanced chromosomal changes when occurring in a low proportion of cells. CGH increased the detection of unbalanced chromosomal alterations and allowed precise defining of partial or uncharacterized cytogenetical abnormalities. Application of the CGH technique is thus a useful complementary diagnostic tool for CCA in de novo AML cases with abnormal karyotypes or with unsuccessful cytogenetics. |
| Databáze: | OpenAIRE |
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