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High‐resolution comparative genomic hybridisation yields a high detection rate of chromosomal aberrations in childhood acute lymphoblastic leukaemia
Author(s) -
Kristensen Tim D.,
Wesenberg Finn,
Jonsson Olafur G.,
Carlsen Niels T.,
Forestier Erik,
Kirchhoff Maria,
Lundsteen Claes,
Schmiegelow Kjeld
Publication year - 2003
Publication title -
european journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.904
H-Index - 84
eISSN - 1600-0609
pISSN - 0902-4441
DOI - 10.1034/j.1600-0609.2003.00072.x
Subject(s) - karyotype , chromosome , cytogenetics , bone marrow , biology , comparative genomic hybridization , medicine , gastroenterology , pathology , oncology , genetics , gene
Background: Cytogenetic aberrations are of prognostic significance in childhood acute lymphoblastic leukaemias and a high detection rate could improve the biological understanding and classification of these diseases. Methods: Bone‐marrow samples from 92 children with acute lymphoblastic leukaemia were studied by high‐resolution comparative genomic hybridisation (HRCGH) using dynamic standard reference intervals that enhance both specificity and sensitivity in the detection of aberrations. Results: In 80 patients (87%) HRCGH revealed a total of 405 aberrations, mostly whole chromosome gains ( n = 265) and partial losses ( n = 80). The 25 leukaemias with a gain of more than five whole chromosomes by HRCGH harboured only 7% of all losses. With G‐band karyotyping 59 patients (64%) had aberrations. HRCGH revealed more aberrations per patient than did G‐band karyotyping (median: 3 vs. 1, P = 0.005), revealed aberrations in 27 of the 34 patients for whom the G‐band karyotyping failed or was found to be normal, and specifically revealed more 9p losses (21% vs. 5%, P < 0.005), 12p losses (12% vs. 2%, P < 0.05) and 17q gains (11% vs. 1%, P < 0.01). Compared to the present study, the frequency of patients with aberrant karyotypes was significantly lower in previous conventional CGH studies (64% vs. 87%, P < 0.0001), as was the rate of partial aberrations per patient (1.1% vs. 1.7, P < 0.001), particularly with fewer 6q losses, 9p losses and 17q gains detected. Conclusion: HRCGH is superior to conventional CGH as an adjunct to G‐band karyotyping as it detects recurrent aberrations at a significantly higher rate than both these techniques.