Interphase fluorescence in situ hybridization was used to detect common deletions in B-CLL patients as well as trisomy 12 and aberrations of IgH gene complex at 14q32.33 where we evaluated not only translocation-like signal pattern but also deletions. 120 (82%) patients showed genetic changes - del(13)(q14) 95 (62%), deletion of ATM gene 22 (15%), deletion of p53 gene 25 (17%) and trisomy 12 was proved in 18 (12%) cases. IgH rearrangements were detected in 45 (31%), split of the signals in 11 (8%), deletion of 3' segment flanking IgH gene in 5 (3%) and deletions of variable segment in 29 (20%) patients. Although deletions of 3' segment flanking IgH gene complex are supposed to have an adverse prognostic impact and the genetic background of variable segment deletions is believed to be most probably physiological, we assumed a detailed mapping of the 14q32.33 region will be needed to unravel these mysteries.
- MeSH
- Survival Analysis MeSH
- Chromosome Aberrations MeSH
- Leukemia, Lymphocytic, Chronic, B-Cell genetics MeSH
- Cytogenetic Analysis MeSH
- Molecular Diagnostic Techniques MeSH
- Financing, Organized MeSH
- In Situ Hybridization, Fluorescence MeSH
- Middle Aged MeSH
- Humans MeSH
- Chromosomes, Human, Pair 12 MeSH
- Chromosomes, Human, Pair 13 MeSH
- Chromosomes, Human, Pair 14 MeSH
- Mutation MeSH
- Retrospective Studies MeSH
- Aged, 80 and over MeSH
- Aged MeSH
- Immunoglobulin Heavy Chains genetics MeSH
- Trisomy MeSH
- Check Tag
- Middle Aged MeSH
- Humans MeSH
- Male MeSH
- Aged, 80 and over MeSH
- Aged MeSH
- Female MeSH
In bone marrow cells of 33 patients with myelodysplastic syndrome and acute myeloid leukemia, structural rearrangements of chromosome 7 were found with conventional G-banding: 8 with deletions 7q and 25 with translocations. In 29 of the patients, complex karyotypes were confirmed using multicolor fluorescence in situ hybridization (mFISH). Commercial probes (Abbot Molecular) were used for 7q22, 7q31, and 7q35, the regions most frequently deleted in myeloid malignancies. In three cases without deletions, high-resolution multicolor banding (mBAND) for chromosome 7 revealed other aberrations. Five groups of chromosomal rearrangements were established: (a) deletion 7q as a sole aberration (2 cases), (b) deletion 7q and complex karyotypes (6 cases), (c) combined translocations and deletions of 7q (17 cases), (d) combined translocation and deletion 7p (5 cases), and (e) translocation of chromosomes 7 without deletion 7p or 7q (3 cases). Deletions of all three FISH-screened regions were the most frequent, with heterogeneous breakpoints. The region 7p13.2 approximately p15.2 was most commonly deleted. Most of the deletions were cryptic, not detectable with conventional cytogenetics. Aberrations of chromosome 7 are associated with a very poor outcome; survival time in our cohort was short (median 7 months).
- MeSH
- Acute Disease MeSH
- Chromosome Aberrations MeSH
- Chromosome Deletion MeSH
- Adult MeSH
- Financing, Organized MeSH
- In Situ Hybridization, Fluorescence MeSH
- Kaplan-Meier Estimate MeSH
- Karyotyping MeSH
- Cohort Studies MeSH
- Middle Aged MeSH
- Humans MeSH
- Chromosomes, Human, Pair 7 genetics MeSH
- Myelodysplastic Syndromes genetics pathology MeSH
- Leukemia, Myeloid genetics pathology MeSH
- Prognosis MeSH
- Chromosome Banding MeSH
- Aged, 80 and over MeSH
- Aged MeSH
- Translocation, Genetic MeSH
- Check Tag
- Adult MeSH
- Middle Aged MeSH
- Humans MeSH
- Male MeSH
- Aged, 80 and over MeSH
- Aged MeSH
- Female MeSH
We analyzed complex chromosomal aberrations in 37 adult patients with myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML) using classical cytogenetic method, FISH with locus-specific probes, multicolor FISH (mFISH) and multicolor banding (mBAND). Unbalanced structural aberrations, leading to a gain or loss of chromosomal material, were frequently observed in bone marrow cells. In 30 patients (81.1%) loss or rearrangement of chromosome 5, 7 and/or 11 was found. The most frequent numerical change was trisomy 8 as expected (detected in six patients-16.2%) and the most frequent breakpoints 5q13, 5q33, 7q31, 10p12, 11q23, 12p13, 17p11 and 21q22 were determined.
- MeSH
- Leukemia, Erythroblastic, Acute genetics pathology MeSH
- Bone Marrow Cells physiology pathology MeSH
- Chromosome Aberrations MeSH
- History, 16th Century MeSH
- Adult MeSH
- Financing, Organized MeSH
- Gene Rearrangement genetics MeSH
- In Situ Hybridization, Fluorescence MeSH
- Karyotyping MeSH
- Middle Aged MeSH
- Humans MeSH
- Chromosomes, Human genetics MeSH
- Myelodysplastic Syndromes genetics pathology MeSH
- Aged MeSH
- Check Tag
- History, 16th Century MeSH
- Adult MeSH
- Middle Aged MeSH
- Humans MeSH
- Male MeSH
- Aged MeSH
- Female MeSH
- Publication type
- Historical Article MeSH
Specific gene mutations, loss of heterozygosity, deletions and/or amplifications of entire chromosomal regions and gene silencing have been described in gliomas. 82 samples from 81 patients were investigated to detect the deletion of TP53, RB1, CDKN2A genes, deletion of 1p36 and 19q13.3 region, amplification of EGFR gene, trisomy of chromosome 7 and monosomy of chromosome 10 in glial cells. Dual-colour interphase fluorescence in situ hybridization (I-FISH) with locus-specific and/or chromosome enumeration DNA probes were used for cytogenetic analyses. In the study, molecular cytogenetic analyses were successfully performed in 74 patients (91.3%) and were uninformative in 7 only (8.7%). The cytogenetic analyses were correlated with morphological data and clinical outcome. I-FISH was the essential part of diagnostics. In comparison with the clinical data, the patients' age seems to be a factor more important for the overall survival, rather than cytogenetic findings in glial tumours. The combined deletion of 1p36 and 19q13.3 chromosomal regions predicts longer overall survival for patients with oligodendroglial tumours.
- MeSH
- Cytogenetic Analysis MeSH
- Adult MeSH
- Financing, Organized MeSH
- Glioma genetics mortality pathology MeSH
- In Situ Hybridization, Fluorescence MeSH
- Middle Aged MeSH
- Humans MeSH
- Adolescent MeSH
- Brain Neoplasms genetics mortality pathology MeSH
- Prognosis MeSH
- Aged MeSH
- Check Tag
- Adult MeSH
- Middle Aged MeSH
- Humans MeSH
- Adolescent MeSH
- Male MeSH
- Aged MeSH
- Female MeSH
