Cytogenetic analysis of double satellites on marker chromosome No. 14.
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Child↗
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Mutagenicity studies on ethylenethiourea. II. Cytogenetic analysis [proceedings].
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Animals↗
[Cytogenetic analysis of the peripheral blood lymphocytes in workers engaged in the process of vinyl chloride polymerization].
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Cells, Cultured↗
Mutagenicity studies with nitrofurans. I. Mutagenicity of nitrofurylacrylic acid for mammals.
Cytogenetic analysis of mouse bone-marrow cells, the dominant lethal test in mice and the cytogenetic analysis of human peripheral lymphocytes in vitro were used to study the mutagenicity of 3-(5-nitro-2-furyl)acrylic acid (5-NFA) for mammals. The bone-marrow cytogenetic analysis was performed in female mice exposed to 5-NFA administered intraperitoneally in single doses of 15--120 mg/kg and in 5 repeated doses of 15 and 30 mg/kg, intragastrically in single doses of 30--240 mg/kg and 5 repeated doses of 30 and 60 mg/kg, and perorally for 12 weeks to 5-NFA concentration of 10, 100 and 1000 mg 5-FNA/1 in drinking water. The bone-marrow analysis was performed in this case after 12 days, 3, 4, 6, 8, 10 and 12 weeks exposure. No increase in chromosome damage attributable to dosing with 5-NFA occurred in any of these experiments. Experiments in which mice were exposed to 5-NFA in drinking water for 12 weeks and then treated with a single i.p. dose of 2 mg of the mutagen TEPA [trix-(1-aziridinyl)phosphine oxide] per kg revealed that, at a concentration of 1000 mg 5-NFA/1, the clastogenic activity of TEPA was reduced to that in untreated animals. The dominant lethal test was performed in male mice exposed to 5-NFA applied intraperitoneally in single doses of 40--120 mg/kg and in 5 repeated doses of 10--30 mg/kg, intragastrically in 5 repeated doses of 20--60 mg/kg, and perorally for 4 weeks in drinking water containing 5-NFA at concentrations of 10, 100, 316 and 1000 mg/l. No significant differences were detected between the exposed and control groups of animals. Experiments in which male mice were exposed to 5-NFA in drinking water and treated after the 4-week exposure to 5-NFA with 1 mg TEPA/kg revealed that a concentration of 1000 mg 5-NFA/1 reduced TEPA-induced dominant lethality to within control values. A reduction in male fertility was observed after the single or repeated 5-NFA doses, but no changes when 5-NFA was applied in drinking water. The cytogenetic analysis of human peripheral lymphocytes exposed in vitro for the last 24 h of culture to concentrations of 1--100 micrograms 5-NFA/Ml did not show any compound-related chromosomal changes. The results of dominant-lethal and bone-marrow cytogenetic studies in mice after consumption of drinking water containing 1000 mg of 5-NFA/1 for 12 weeks and dosed subsequently with TEPA suggests that 5-NFA has some antimutagenic activity. Because none of the studies reported revealed any compound-related genetic activity, the results suggest that 5-NFA is not a chromosome-breaking agent in mammals.
Acrylates↗
System for the evaluation of the risk from chemical mutagens for man: basic principles and practical recommendations.
A testing system is recommended that permits (1) reduction in cost and time requirements, (2) analysis of gene and chromosome mutations in germ and somatic cells, (3) evaluation of mutagenic effects of a chemical substance and its metabolites, (4) guarantee of the minimal variability between separate experiments and (5) evaluation of the dose--effect relationship. The testing scheme has two parts, a screening system and a complete test system. The screening system consists of two tests: (a) test on microorganisms with a metabolic activation in vitro (or test on Drosophila) and (b) cytogenetic analysis of mammalian bone marrow. The complete test system includes 4 tests: (a) test on microorganisms with a metabolic activation in vitro and in vivo (or test on Drosophila), (b) dominant-lethal test on mammals, (c) cytogenetic analysis of mammalian bone marrow and (d) cytogenetic analysis of the culture of human lymphocytes. The decision whether the selected chemical substance is to be tested according to the screening or complete test system is based on: its occurrence in the population, its economic (or medical) significance, and on information concerning its mutagenic, carcinogenic or teratogenic effects. The group of chemicals to be tested according to the screening system involves: industrial chemicals, organophosphate insecticides, drugs used by a limited group of patients. The group of chemicals to be tested according to the complete test system consists of pesticides, food additives, drugs in general use as well as chemicals of the former group, if at least one of the screening system tests detected some genetic effect. Genetic risk estimation should be governed by the following considerations. A positive effect identified in any test of the testing system must have a direct bearing on man. Quantitative evaluation of mutagenic risk from a chemical substance can be determined by the increased level of spontaneous mutations in the most sensitive test on the basis of an average dose of, and exposure to, the given chemical substance in the human population. Chemicals showing a mutagenic activity in any of recommended tests are subject to the quantitative evaluation, they are usually widespread and because of their social or economic value they cannot be replaced or excluded. Genetic aspects require that any substance with a mutagenic activity be considered dangerous and its use should be prohibited or it should be replaced by another non-mutagenic chemical, or at least the contact with it should be limited to persons of non-reproductive age. From the hygienic aspect it is recommended, as a temporary measure, to evaluate a chemical mutagen and to prohibit or limit its use if its average population dose produces a 0.1% or greater increase in the spontaneous level of mutations.
Animals↗
KIT and FLT3-ITD mutations do not predict outcomes in pediatric core-binding factor acute myeloid leukemia: findings from the C-HUANAN-AML-15 multicenter cohort study.
Although core-binding factor acute myeloid leukemia (CBF-AML) is generally considered a favorable-risk subtype in children, disease relapse remains a significant concern. The prognostic relevance of co-occurring mutations, particularly KIT and FLT3-ITD, remains debatable, and treatment intensity may modulate their impact. This multicenter analysis included 289 children (< 14 years) with newly diagnosed CBF-AML enrolled in the C-HUANAN-AML-15 study (2015-2023). KIT and FLT3-ITD mutations were identified via cytogenetic analysis and targeted sequencing. Measurable residual disease (MRD) was evaluated by multiparameter flow cytometry (MFC) and quantitative polymerase chain reaction (PCR) following induction chemotherapy. Survival analyses were performed using Kaplan-Meier and Cox regression methods. This multicenter analysis included 289 children (< 14 years) with newly diagnosed CBF-AML enrolled in the C-HUANAN-AML-15 study (2015-2023). KIT and FLT3-ITD mutations were identified via cytogenetic analysis and targeted sequencing. Measurable residual disease (MRD) was evaluated by multiparameter flow cytometry (MFC) and quantitative polymerase chain reaction (PCR) following induction chemotherapy. Survival analyses were performed using Kaplan-Meier and Cox regression methods. KIT mutations were detected in 103 patients (35.6%), predominantly involving exon 17 (69.9%), and were associated with extramedullary disease, sex chromosome loss, and trisomy 22. No significant differences in 5-year event-free survival (EFS), overall survival (OS), or cumulative incidence of relapse (CIR) were observed between patients with and without KIT mutations. FLT3-ITD mutations (5.5% of patients) did not adversely affect outcomes. Neither mutation independently predicted survival. MRD positivity (MFC-MRD ≥ 0.1%) after the second induction cycle strongly predicted inferior EFS and OS and higher CIR, with corresponding results observed for molecular MRD and parallel findings for PCR-based MRD. In this large multicenter cohort, KIT and FLT3-ITD mutations did not adversely affect the prognosis of pediatric CBF-AML treated according to the C-HUANAN-AML-15 protocol. MRD after induction was the most powerful predictor of relapse and survival, underscoring its importance for risk stratification in future pediatric AML trials.
Humans↗
Potential genetic risks from stationary magnetic field.
Cytogenetic analysis of Dede cell lines (Chinese hamster) was used to study the mutagenic effect of stationary magnetic field (SMF) and the combined effect of SMF and TEPA. Cytogenetic analysis showed a moderate mutagenic effect after exposure to SMF. In combination with TEPA, only the additive effect of the two mutagens was observed.
Animals↗
Cytophotometric DNA-measurements in abortion.
Triploid abortuses ascertained by cytogenetic analysis histologically show molar degeneration of the placental villi. Changes of this type which are occasionally encountered in routine material may suggest chromosome abnormality although chromosome analysis is precluded due to fixation. However, suspected triploidy can be proven in Feulgen-stained sections by DNA-measurements. In nine cases of molar degeneration selected according to histological criteria, evaluation of nuclear DNA-content revealed only two triploid placentae. It seems acceptable to assume that such molar changes in diploid abortuses may be due to prolonged retention of the placenta. Thus, histological criteria may suggest but cannot establish the diagnosis of triploidy. In case of susepcted triploidy of the feto-placental tissue, DNA-measurements can confirm or exclude the diagnosis even if a cytogenetical analysis is not applicable.
Abortion, Spontaneous↗
[An analysis of cytogenetic studies of 2334 patients].
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Amenorrhea↗
Cytogenetic Diversity of Variant Philadelphia Translocations in Chronic Myeloid Leukemia.
INTRODUCTION: Chronic myeloid leukemia (CML) is a disease characterized by Philadelphia (Ph) translocations. These translocations can be classical or variant. The structural features and diagnostic implications of variant Philadelphia translocations remain incompletely defined, and they display considerable cytogenetic heterogeneity. METHODS: In this retrospective study, variant Ph translocations identified by conventional cytogenetic analysis and fluorescence in situ hybridization (FISH) were systematically classified among 639 patients diagnosed with CML. A total of 35 patients with variant Ph translocations were included in the analysis. Molecular follow-up data, when available, were assessed using RT-qPCR analyses in a subset of patients. RESULTS: Chromosome analysis revealed 2 simple and 33 complex variant Ph translocations. FISH analysis, performed in 20 patients, identified deletions involving BCR, ABL1, or both in a limited number of cases. Additional chromosomal abnormalities and secondary translocations accompanied variant Ph translocations in four patients. The partner chromosomes involved in variant Ph translocations showed marked diversity, involving multiple chromosomal loci. CONCLUSION: Variant Philadelphia chromosome translocations in CML exhibit substantial cytogenetic diversity, reflecting the complexity of their underlying genomic architecture. The rarity and heterogeneity of these rearrangements complicate their classification and interpretation in routine diagnostic practice. Descriptive reporting of variant Ph translocations may contribute to a better understanding of their diagnostic complexity and support more accurate cytogenetic interpretation in CML.
Humans↗
[Value of the meiosis test in male infertility].
The histological evaluation of testicular biopsy in the investigation of infertility was supplemented by cytogenetic analysis of spermatogenesis in 72 patients from 1976--1978. The results show meiosis analysis to be a practical aid in the assessment of male infertility. It enables the point of interruption in the meiotic process to be accurately identified. A review of relative populations of meiotic and of interphase nuclei (the meiotic index) permits evaluation of a quantitative disturbance of spermatogenesis, a finding that is of particular value when establishing a patient's prognosis. Moreover, meiotic analysis makes it possible to recognize cytogenetic anomalies which could be responsible for the infertility state and which were chiefly seen in patients whose so-called primary infertility was hitherto classified as being of unknown origin. In two patients we thus identified a small additional chromosome in a fraction of the germinal cells, and also an abnormal pairing of all chromosomes, or the sex chromosomes alone, during the first meiotic division.
Biopsy↗
Optical Genome Mapping in Myelodysplastic Syndromes: Clinical Value and Limitations Derived From a Cohort of 236 Patients.
Identification of cytogenetic abnormalities is critical for the classification and risk stratification of myelodysplastic syndromes (MDS). Optical genome mapping (OGM) is an emerging cytogenomic platform that enables high-resolution genome-wide cytogenetic analysis. We analyzed bone marrow specimens of 236 MDS patients, 149 newly diagnosed and 87 with relapsed/refractory disease, using OGM, conventional karyotyping, and next-generation sequencing analysis. OGM and karyotyping showed concordant results in 68% of cases, including 34% with normal findings by both assays. OGM provided additional information in 27% of patients. Common abnormalities detected exclusively by OGM included chromoanagenesis (n = 33), KMT2A partial tandem duplication (n = 7), and MECOM rearrangement (n = 4). These OGM findings led to disease reclassification and/or changes in risk stratification in 14 patients (9.4%) with newly diagnosed MDS. In contrast, OGM failed to detect small clones or subclones in 5% of patients, resulting in risk group changes in 2% of newly diagnosed MDS patients. We conclude that OGM enhances the cytogenetic assessment of MDS in approximately 25% of patients and leads to a change in disease classification and/or risk stratification in approximately 10% of patients. However, low sensitivity for detecting small clones or subclones remains a limitation of OGM.
Humans↗
Horizontally transferred cell-free chromatin particles function as autonomous 'satellite genomes' and vehicles for transposable elements within host cells.
Horizontal gene transfer (HGT) plays an important evolutionary role in prokaryotes, but it is less frequent in mammals. We previously reported that cell-free chromatin particles (cfChPs) - chromosomal fragments released from the billions of dying cells that circulate in human blood - are horizontally transferred to healthy cells with biological effects. However, the underlying mechanism and function of these effects remained unclear. We treated NIH3T3 mouse fibroblasts cells with cfChPs isolated from human serum and serially passaged the cells. The intracellular activities of cfChPs were analysed using chromatin fibre fluorography, cytogenetic analysis, immunofluorescence, and fluorescent in situ hybridisation. We discovered that the internalised cfChPs were almost exclusively comprised of non-coding DNA, and the disparate DNA sequences contained within them had randomly combined to form complex concatemers, some of which were multi-mega base pairs in size. The concatemers autonomously performed many functions attributable to the nuclear genome such as DNA, RNA and protein synthesis. They harboured human LINE-1 and Alu elements, with the potential to rearrange themselves within the mouse genome. Our results suggest that a cell simultaneously harbours two autonomous genome forms: one that is inherited (hereditary genome) and numerous others that are acquired (satellite genomes). The satellite genomes may have evolutionary functions given their ability to serve as vehicles for transposable elements and to generate a plethora of novel proteins. Our results also suggest that 'within-self' HGT may occur in mammals on a massive scale via the medium of cfChP concatemers that have undergone extensive and complex modifications resulting in their behaviour as 'foreign' genetic elements.
Chromatin↗
Mutagenic effect of epichlorohydrin. II. Analysis of chromosomal aberrations in lymphocytes of persons occupationally exposed to epichlorohydrin.
A prospective cytogenetic study was conducted in 35 workers occupationally exposed to epichlorohydrin (ECHH). Blood samples for cytogenetic analysis were collected before the exposure (to serve as a control) and after the first and second years of ECHH exposure; the cultivation time was 56--58 h. Four slides from each worker were prepared, coded and two of them separately analysed in two collaborating cytogenetic laboratories. About 50 cells were analysed on each slide, giving a total 16,674 scored cells. The percentage of cells with chromosomal aberrations in blood samples of workers was 1.37 before exposure, 1.91 after the first year and 2.69 after the second year of exposure. The difference between percentages of aberrant cells before and after two years of occupational exposure was highly significant (P less than 0.0001). There was particularly observed an increase of chromatid and chomosomal breaks after exposure, simultaneously with an increased number of breaks per 100 cells. These results are concordant with previously reported cytogenetic data found in experiments with mammals and human cells in vitro.
Adult↗
Prognosis in well differentiated noninvasive carcinoma of the bladder based on chromosomal analysis.
In this series of 27 consecutive patients with well differentiated noninvasive carcinoma of the bladder, cytogenetic analysis repeatedly performed showed marker chromosomes in curative cytoscopic resections of 15 of the patients. In 14 of the 15 patients, recurrent carcinoma developed. Of the 12 patients without markers, one patient had a recurrence; the remaining 11 have been free of recurrence up to eight years after diagnosis. In this long term, although limited, experience with early carcinoma of the bladder, marker chromosomes have been a highly accurate prognostic aid.
Chromosome Aberrations↗
Prognosis in early carcinoma of the bladder based on chromosomal analysis.
In 53 cases of non-invasive or submucosal invasive well differentiated carcinoma of the bladder observed for 4 to 101 months cytogenetic analysis by the direct technique (non-culture) has been performed repeatedly. Markers, abnormal chromosomes, have been found in 33 patients and recurrence has developed in 32 of these 33 patients, resulting in 9 deaths. All but 1 of the 20 patients without markers have been observed for up to 8 years and have remained free of recurrence. In this 1 recurrence, 8 months post-diagnosis, the mode changed from 69 to 92, evidence of dedifferentiation and development of a new tumor in a bladder prone to neoplasia. Based on our over-all cytogenetic experience with 165 patients with carcinoma of the bladder a simplified classification is presented. This classification, built on measurable characteristics of early carcinoma, including the presence or absence of marker chromosomes, allows accurate prognostication and, thus, provides the foundation for development of standard therapy.
Adult↗
Heritable translocation test on random-bred mice after prolonged triethylenemelamine treatment.
Heritable translocation and dominant lethal tests were conducted with random-bred Swiss albino male mice. The animals were provided drinking water containing triethylenemelamine (TEM) for 4 weeks, and were then mated for 3 successive weeks for analysis of dominant lethality and production of F1 progeny. Potential translocation carriers among F1 males were selected after two breedings and confirmed by cytogenetic analysis. Translocation heterozygotes were obtained in offspring of the TEM-treated groups, but not in the control groups. In F1 males produced from the first week of mating, the frequencies of translocations were 0, 1.78 6.2 and 10.0% for the control group and groups receiving TEM at 0.0125, 0.025 and 0.050 mg/kg/day, respectively, and in those produced from the third week of mating, the values were 0 and 2.1%, respectively, for the control group and the group receiving TEM at 0.050 mg/kg/day. F1 males from the second week of mating were not studied for the induction of heritable translocations. TEM-induced dominant lethality and heritable translocations were most prominent in the first week of mating after 4 weeks of treatment. In addition, heritable translocations appeared to be a more sensitive endpoint than dominant lethal mutations for the measurement of mutagenic effects of TEM.
Animals↗
[Comparative study of the karyotype and histostructure of neoplasms of the uterine body, stomach and malignant melanoma].
Direct analysis of karyotype revealed a heterogeneity of chromosome composition, variations in modal lines and chromosome aberrations, diversity of marker chromosome morphology. The variability of cytogenetic alterations was found in tumors both of the same and of different origin. These results established the nature of genome and chromosome alterations in the investigated tumors. The problem is discussed of a possible use of cytogenetic analysis for a more concrete characterization of human tumors in terms of their biological features.
Adenocarcinoma↗