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Acquired chromosomal aberrationns in peripheral blood lymphocytes of patients with newly diagnosed cancer and healthy control individuals.
Vodenková, Soňa ; Polívková, Zdeňka (advisor) ; Langová, Martina (referee)
The majority of human cancers arise due to cells inabitily to maintain genomic stability. Cytogenetic changes (especially chromosomal aberrations) in peripheral blood lymphocytes which reflect not only the individual exposure to genotoxic factors, but also individual sensitivity to genotoxic effect and the tumor is late consequence to genotoxic effect. Summary epidemiological prospective studies over the last ten years have shown that increased level of chromosomal aberrations in peripheral blood lymphocytes is predictive of cancer risk. This thesis is focused on the detection of particular types of chromosomal damage in patients with choosed types of newly diagnosed cancers compared to healthy control persons. We cytogenetically analyzed 100 patients with colorectal cancer and 298 controls and 123 patients with breast cancer and 123 controls - healthy women. We compared the percentage of aberrant cells, the percentage of total aberrations, the percentages of chromatid and chromosome aberrations found in patients with both types of tumors and in controls and we verified the predictive value of chromosomal aberrations as a biomarker of cancer risk. In patients with colorectal cancer was statistically significantly increased only the level of chromatid aberrations (CHTA) (1,45±1,28) compared to...
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Pathological findings in pediatric patients detected by array-CGH
Šlégrová, Sandra ; Krkavcová, Miroslava (advisor) ; Panczak, Aleš (referee)
The thesis focuses mostly on discovering unrevealed causes of pathologic phenotype symptoms of patients with whom no pathologic changes in genetic material were detected by common cytogenetic methods. All samples were examined by a chip method array-CGH (comparative genomic hybridization) which detects aberrant spots without any knowledge of where they are located in the genome. In some cases the method was used to verify or specify the finding that was diagnosed during previous genetic testing. The patients were examined by this method in an accredited genetics laboratory GENvia, s.r.o. in 2013 and partly also in 2014. The theoretical part of the thesis focuses on the role of the common cytogenetic method and its diagnostic use. I also describe the basic principle of the array-CGH method and its use in prenatal and postnatal diagnostics. The practical part of the thesis describes results of all examined patients. But mostly it focuses on pediatric patients where the diagnosis correlates with their clinical symptoms. All the results were verified by another method used for the particular diagnosis. Some results were verified by FISH (fluorescence in situ hybridization) method, other ways of the results verification are described as well. In total 8 pathologic findings were discovered in patients up to 12...
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Detection of submicroscopics aberrations using arrayCGH
HORÁKOVÁ, Pavla
This thesis addresses array CGH method (Comparative Genomic Hybridization on microarrays) and its use inprenatal and postnatal genetic diagnosis. The method used was to determine the chromosomal areas in which the number of copies of DNA sequences had changed. Localizations of the aberrations sites are not known in advance; the issue is that of all genomic screening. The method is used in suspected cases of microdeletion and microduplication syndromes. It may also be used in cases of patients with pathological phenotypic changes, but other methods have shown no change in genetic makeup. This thesis focuses on diagnosis in the prenatal period and investigates the causes of pathological symptoms in the postnatal diagnosis. Firstly, this thesis describes procedures in clinical cytogenetics and then it discusses submicroscopic changes. Secondly, the thesis looks into the array CGH method, explains its procedure and use, and evaluates and interpretates its results. Finally, the work statistically evaluates the array CGH data procured in the OLG department in Thomayrova hospital from 8/ 8 to 3/19. The array CGH method may be used to supplement routinely administered cytogenetic tests. It enables specialists to obtain more detailed information about the genetic material of an individual and examine the frequency of microdeletion and microduplication syndromes. The diagnosis and prognosis of patients may be determined based on the results.
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Pathological findings in pediatric patients detected by array-CGH
Šlégrová, Sandra ; Krkavcová, Miroslava (advisor) ; Panczak, Aleš (referee)
The thesis focuses mostly on discovering unrevealed causes of pathologic phenotype symptoms of patients with whom no pathologic changes in genetic material were detected by common cytogenetic methods. All samples were examined by a chip method array-CGH (comparative genomic hybridization) which detects aberrant spots without any knowledge of where they are located in the genome. In some cases the method was used to verify or specify the finding that was diagnosed during previous genetic testing. The patients were examined by this method in an accredited genetics laboratory GENvia, s.r.o. in 2013 and partly also in 2014. The theoretical part of the thesis focuses on the role of the common cytogenetic method and its diagnostic use. I also describe the basic principle of the array-CGH method and its use in prenatal and postnatal diagnostics. The practical part of the thesis describes results of all examined patients. But mostly it focuses on pediatric patients where the diagnosis correlates with their clinical symptoms. All the results were verified by another method used for the particular diagnosis. Some results were verified by FISH (fluorescence in situ hybridization) method, other ways of the results verification are described as well. In total 8 pathologic findings were discovered in patients up to 12...
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Acquired chromosomal aberrationns in peripheral blood lymphocytes of patients with newly diagnosed cancer and healthy control individuals.
Vodenková, Soňa ; Polívková, Zdeňka (advisor) ; Langová, Martina (referee)
The majority of human cancers arise due to cells inabitily to maintain genomic stability. Cytogenetic changes (especially chromosomal aberrations) in peripheral blood lymphocytes which reflect not only the individual exposure to genotoxic factors, but also individual sensitivity to genotoxic effect and the tumor is late consequence to genotoxic effect. Summary epidemiological prospective studies over the last ten years have shown that increased level of chromosomal aberrations in peripheral blood lymphocytes is predictive of cancer risk. This thesis is focused on the detection of particular types of chromosomal damage in patients with choosed types of newly diagnosed cancers compared to healthy control persons. We cytogenetically analyzed 100 patients with colorectal cancer and 298 controls and 123 patients with breast cancer and 123 controls - healthy women. We compared the percentage of aberrant cells, the percentage of total aberrations, the percentages of chromatid and chromosome aberrations found in patients with both types of tumors and in controls and we verified the predictive value of chromosomal aberrations as a biomarker of cancer risk. In patients with colorectal cancer was statistically significantly increased only the level of chromatid aberrations (CHTA) (1,45±1,28) compared to...
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