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Agata Pastorczak,
Patryk Górniak,
Amy Sherborne,
Fay Hosking,
Joanna Trelińska, Monika Lejman,
Tomasz Szczepański,
Maciej Borowiec,
Wojciech Fendler,
Jerzy Kowalczyk,
Richard S Houlston,
Wojciech Młynarski
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ABSTRACT: Recent studies have shown that SNPs mapping to 7p12.2 (IKZF1), 9p21 (CDKN2A), 10q21.2 (ARID5B), and 14q11.2 (CEBPE) and carrier status for recessively inherited Nijmegen Breakage syndrome (NBS) influence childhood acute lymphoblastic leukemia (ALL) risk. To examine these relationship, we analysed 398 ALL cases and 731 controls from Poland. Statistically significant association between genotype at 7p12.2 (IKZF1), 10q21.2 (ARID5B) and the NBS associated locus, 8q21.3 (NBN) and ALL risk was found; odds ratios (ORs), 1.34 (P=0.002), 1.33 (P=0.003), and 1325.21 (P=0.0028), respectively. These data provide further insights into the biological basis of ALL highlighting the existence of both common and rare disease susceptibility variants.
Leukemia research 08/2011; 35(11):1534-6. · 2.36 Impact Factor
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ABSTRACT: Comparative genomic hybridization (CGH) is a technique that permits detection of chromosomal imbalances. This method allows the detection of gains and losses of genetic material at a resolution lower than 5 Mb. The limitations of conventional cytogenetic studies, such as morphologically insufficient quality of metaphases or the mitotic index, can be eliminated by use of CGH. It is particularly important in the diagnosis of leukemias, and CGH could be a useful tool enabling more precise cytogenetic analysis of leukemic cells. A group of 89 children with acute lymphoblastic leukemia was studied by means of CGH using bone marrow obtained from all consecutive pediatric patients. CGH experiments were performed according to the manufacturer's instruction with minor modifications. In addition, each sample was examined with standard GTG technique and fluorescence in situ hybridization. The conventional cytogenetics failed in 12 patients (13.5%), and 22 patients (24.7%) had a normal karyotype. Structural and numerical changes were found in 55 cases (61.8%) displaying a different abnormalities including deletions, trisomies, tetrasomies, isochromosomes, and markers with unknown origin. However, all samples were successfully analyzed by CGH. We have shown that high-resolution comparative genomic hybridization analysis is a reliable and relatively quick one-step method to identify main aberrations that would not be detected by either conventional G banding or by conventional fluorescence in situ hybridization. It should be considered to establish CGH as a routine analysis for screening patients with acute lymphoblastic leukemia.
Cancer genetics and cytogenetics 07/2010; 200(2):161-6. · 1.54 Impact Factor
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ABSTRACT: Myelodysplastic syndromes (MDS) are a diverse and heterogeneous group of clonal and potentially malignant bone marrow (BM) disorders. The up-to-date used criteria are the ones proposed by the French-American-British (FAB) group in 1982, the World Health Organization (WHO) classification, and a new, recently presented classification: categories cytology cytogenetics (CCC) system or 2003 WHO classification scheme. Comparative genomic hybridization (CGH) is a technique that permits the detection of chromosomal imbalances within a "one step" analysis. In our study, we present 5 cases of MDS and 4 cases of acute myelogenous leukemia (AML). By means of high-resolution CGH (HR-CGH) analysis, we were able to detect DNA copy number alterations in 8 out of 9 samples. The changes were as follows: -7, -Y, del(5)(q33q34), del(11)(q22q24), del(5p), del(9)(q21q31), nullisomy X, and +8. In 5/9 cases the HR-CGH data were highly comparable with conventional cytogenetics and interphase/metaphase fluorescence in situ hybridization findings. Additionally, in 3 BM samples the HR-CGH revealed the presence of changes that had not been detected by conventional cytogenetics: del(5p), del(5)(q33q34), del(9)(q21q31), and nullisomy X. The high effectiveness, specificity, and sensitivity of this method are in concordance with the conventional cytogenetics and FISH findings and the ability to detect new changes.
Cancer Genetics and Cytogenetics 05/2005; 158(1):49-54. · 1.39 Impact Factor
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ABSTRACT: Fluorescence in situ hybridization (FISH) using chromosome-specific DNA probes is rapidly becoming a part of clinical laboratory practice. However, as a relatively new clinical test, it is not yet standardized and for practical reasons each laboratory must establish its own criteria. For this purpose we have evaluated the specificity of a dual-color BCR/ABL translocation probe by establishing the range of BCR/ABL fusion-positive scores in a healthy donor group. The false positive rate (FPR), determined by the percent of FISH BCR/ABL fusion-positive cells found in the specimens of healthy donors, was estimated at 2.3% (mean = 1%-4%). Thus the cut-off value for false positive nuclei was set at 5%.
Cancer Genetics and Cytogenetics 05/2003; 142(1):51-5. · 1.39 Impact Factor
