Molecular cytogenetic study of derivative chromosome 9 deletion in chronic myeloid leukemia patients

The aims of this study are to investigate the frequency of derivative chromosome 9 (der (9)) deletion in Tunisian patients with chronic myeloid leukemia (CML) and to assess the correlation between this deletion and the cytogenetic response for patients treated with hydroxyurea (HU) or imatinib (IM)....

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Bibliographic Details
Published in:Medical oncology (Northwood, London, England) London, England), 2012-06, Vol.29 (2), p.1151-1160
Main Authors: Bennour, Ayda, Ouahchi, Ines, Ben Youssef, Yosra, Zaier, Monia, Laatiri, Mohamed Adnéne, Harrabi, Imed, Meddeb, Balkis, Elloumi, Moez, Khelif, Abderrahim, Saad, Ali, Sennana, Halima
Format: Article
Language:English
Subjects:
Adult
Antineoplastic Combined Chemotherapy Protocols - therapeutic use
Benzamides
chromosome 9
Chromosome Deletion
Chromosome translocations
Chromosomes
Chromosomes, Human, Pair 22 - genetics
Chromosomes, Human, Pair 9 - genetics
Chronic myeloid leukemia
DNA Probes
Female
Fluorescence in situ hybridization
Fluorescent indicators
Hematology
Humans
Hydroxyurea
Hydroxyurea - administration & dosage
Imatinib
Imatinib Mesylate
In Situ Hybridization, Fluorescence
Internal Medicine
Interphase
Karyotypes
Karyotyping
Leukemia
Leukemia, Myelogenous, Chronic, BCR-ABL Positive - drug therapy
Leukemia, Myelogenous, Chronic, BCR-ABL Positive - genetics
Male
Medicine
Medicine & Public Health
Middle Aged
Oncology
Original Paper
Pathology
Philadelphia Chromosome
Piperazines - administration & dosage
Prognosis
Proto-Oncogene Proteins c-abl - genetics
Proto-Oncogene Proteins c-bcr - genetics
Pyrimidines - administration & dosage
Retrospective Studies
Translocation, Genetic - genetics
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Summary:The aims of this study are to investigate the frequency of derivative chromosome 9 (der (9)) deletion in Tunisian patients with chronic myeloid leukemia (CML) and to assess the correlation between this deletion and the cytogenetic response for patients treated with hydroxyurea (HU) or imatinib (IM). Karyotype analysis of 336 patients with CML was performed with R-banding technique. Fluorescence in situ hybridization (FISH) was carried using home-brew probes 17L7 and 248J22 for detecting, respectively, adjacent 5′ ABL and 3′ BCR deletions on der(9). Cytogenetic study demonstrated typical t(9;22)(q34;q11) translocation in 89.6% and variant translocation in 10.4% of patients. Interphase FISH studies showed deletion of der(9) in 59 (17.6%) of the 336 patients, 23 (39%) of them had variant rearrangements. There are 19 patients with solely 5′ ABL deletion and 40 with concomitant 5′ ABL and 3′ BCR deletions. Cytogenetic response was evaluated during 18 months with HU or IM therapy. Our results demonstrate that (a) 3′ BCR deletion is associated with 5′ ABL deletion in all patients with der(9) deletions, (b) the 5′ ABL and 3′ BCR deletions arise simultaneously with t(9;22), (c) deletions on der(9) chromosome were frequently encountered in older patients and in patients presenting variant rearrangements, (d) both 5′ ABL and 3′ BCR deletions were associated with cytogenetic response failure in patients treated with HU, however, patients treated with IM and carrying der(9) deletions presented better cytogenetic response.
ISSN:1357-0560
1559-131X
DOI:10.1007/s12032-011-9918-8