AIM OF STUDY: Analysis of incidence of chromosomal abnormalities and variants in foetuses karyotyped because of the advanced maternal age. TYPE OF STUDY: A retrospective epidemiological study of results of cytogenetic examinations followed amniocentesis in 418 foetuses. MATERIAL AND METHODS: In our study we have used data from archives of the Cytogenetic laboratory of the Institute of Biology and Medical Genetics of the First Faculty of Medicine, Charles University and General Teaching Hospital in Prague. We have included only the cases where the amniocentesis was performed solely because of advanced maternal age. All cases were divided in specific groups and analyzed. RESULTS: There were totally 1107 karyotype examinations following the amniocentesis between 2007 and 2009 in our laboratory. Among these cases, 418 amniocenteses (37.8%) were performed only because of the advanced maternal age. The mean maternal age in this group was 38.02 +/- 2.4 years. In the whole group of 418 foetuses, 256 of them (61.24%) had normal karyotype, without chromosomal variants or pathologies. In 9 cases (2.15%) we identified pathologic karyotype. Down syndrome was identified in 3 cases (0.72%), what means one case of Down syndrome per 139 amniocenteses performed because of the advanced maternal age. Among other pathologies there were three (0.72%) gonosomal aneuploidies. Variants of acrocentric chromosomes were identified in 121 (28.95%) foetuses, variants of heterochromatine regions in 53 (12.68%) foetuses and other karyotype variants in one case (0.24%). In some cases, we have identified coincidence of more than one chromosomal variant and/or pathology. CONCLUSION: Our study presents the overview of chromosomal pathologies and variants that can be identified in fetal karyotype examinations because of the advanced maternal age. The efficiency of Down syndrome identification did not differ from the overall efficiency of amniocentesis in the Czech Republic. Advanced maternal age is still considered as an important part of the indication criteria for invasive prenatal diagnosis.
The aim of the study was to estimate genetic alterations detected in ovarian and cervical cancer cells, in correlation with other available parameters of a histopathological and clinical character and to find the important associations and differences of both these tumor sites with diverse impacts on the cancer's prognosis. Sixty patients presenting with ovarian cancer and twenty patients manifesting cervical cancer were included in the study. The histological type and grade, MIB-1 and p53 were estimated. For genetic testing, both conventional and molecular methods were applied. The results were subjected to statistical evaluation, using analysis of variances and I2 test. Ovarian cancer patients with extensive chromosomal rearrangements were assessed to be significantly younger. The typical findings, different in ovarian and cervical cancer cells have been found, including some less frequent findings (deletion of 22q in 36% of all ovarian cancer samples, as well as amplifications of chromosome 2 and deletions of chromosome 10, 11p and 21q in cervical cancer cells). The expression of proliferation marker MIB-1 was observed to be significantly higher in women with a high p53 HSCORE. The significant importance of genetic alterations and the activity of proliferative markers, including common correlations with an unfavorable outcome with respect to ovarian tumors in younger women were found. Key words: chromosomal rearrangements, genetic alterations, ovarian cancer, cervical cancer, prognostic significance.
- MeSH
- chromozomální aberace * MeSH
- dospělí MeSH
- karyotypizace MeSH
- lidé středního věku MeSH
- lidé MeSH
- mutace MeSH
- nádorové biomarkery analýza MeSH
- nádory děložního čípku genetika MeSH
- nádory vaječníků genetika MeSH
- prognóza MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- věkové faktory MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- Názvy látek
- nádorové biomarkery MeSH
The aim of the study was to estimate genetic alterations detected in ovarian cancer cells in correlation with other available parameters of histopathological and clinical character and to find important relations with impacts on the cancer prognosis. Additionally, we wanted to compare methods for evaluating genetic changes. Sixty patients with ovarian cancer were included in the study. The histological type and grade were defined, MIB-1 and p53 were estimated using an immunohistochemical method. For genetic testing, both conventional and molecular methods were applied - direct culture and G-banding technique, FISH method with whole chromosome painting probes, and CGH method. The results were submitted to statistical evaluation, using analysis of variances and chi2 test, with Bonnferroni correlations of the significance level. Numerical and structural aberrations have been detected in more than 63 % examined ovarian cancer cases. Patients with extensive chromosomal rearrangements were significantly younger. Specific genetic alterations, including some rare findings such as deletion 22q in 36 % of all ovarian cancer samples, have been found, together with associations between particular prognostic factors.
- MeSH
- chromozomální aberace * MeSH
- dospělí MeSH
- geny p53 MeSH
- karyotypizace MeSH
- lidé středního věku MeSH
- lidé MeSH
- nádorový supresorový protein p53 genetika metabolismus MeSH
- nádory vaječníků genetika metabolismus patofyziologie MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- ubikvitinligasy genetika metabolismus MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- Názvy látek
- MIB1 ligase, human MeSH Prohlížeč
- nádorový supresorový protein p53 MeSH
- ubikvitinligasy MeSH
OBJECTIVE: The aim of the study was to estimate genetic changes detected in ovarian and cervical cancer cells, in correlation with other available clinical and histopathological parameters, with impact upon cancer prognosis. DESIGN: Original article. SETTING: Department of Gynecology and Obstetrics, First Faculty of Medicine, Charles University in Prague and General Teaching Hospital, Prague. METHODS: Sixty patients with ovarian cancer and twenty patients with cervical cancer were included in the study. A histopathologist examined the tumor samples in order to define the histological type and grade. MIB-1 and p53 were estimated using an immunohistochemical method. For genetic testing, both conventional and molecular methods were applied (direct culture and a G-banding technique, the FISH method with whole chromosome painting probes, and the CGH method). The results were submitted to statistical evaluation, using analysis of variances and X2 test. RESULTS: Numerical and structural chromosomal aberrations were detected in more than 63% of the examined ovarian cancer cases and 29% of examined cervical cancer cases. Ovarian cancer patients with extensive chromosomal rearrangements were significantly younger. The most typical findings in ovarian cancer cells were amplifications 1q, 3q, 20q; and deletions 4p, 4q, 18p, 18q, 19q. The most typical findings in cervical tumor cells were amplifications 3q, 5p; and deletions 13q and isochromosome 5p. Some of the less frequent findings in our study were deletion 22q in 36% of all ovarian cancer samples, as well as amplifications of chromosome 2 and deletions of chromosome 10, 11p, 21q in cervical cancer cells. The activity of proliferative marker MIB-1 was significantly higher in women with a high p53 HSCORE (p < 0.01). CONCLUSIONS: Chromosomal rearrangements, different for ovarian and cervical cancer, have been found, including several rare findings. The significant importance of genetic alterations and the activity of proliferative markers, including common correlations with an unfavorable outcome in ovarian tumors of younger women were found.
- MeSH
- adenokarcinom diagnóza genetika MeSH
- antigen Ki-67 analýza MeSH
- chromozomální aberace * MeSH
- dospělí MeSH
- geny p53 MeSH
- lidé středního věku MeSH
- lidé MeSH
- nádory děložního čípku diagnóza genetika MeSH
- nádory vaječníků diagnóza genetika MeSH
- prognóza MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- anglický abstrakt MeSH
- časopisecké články MeSH
- Názvy látek
- antigen Ki-67 MeSH
OBJECTIVE: To sum up the knowledge about prognostic factors of ovarian cancer. TYPE OF STUDY: Review article. SETTING: Department of Gynecology and Obstetrics, First Faculty of Medicine, Charles University Prague and General Teaching Hospital Prague. METHODS: Compilation of data from scientific litarature. CONCLUSIONS: Prognostic factors represent a complex of information with clinical, social, histopathological, biochemical, genetic and molecular biological characteristics. They are integral part of the predictive oncology, with perspective advantage in prevention, screening, prediction, prognosis and monitoring of the tumor disease activity. The prognostic factors of ovarian cancer are discussed from several points of view in the presented review, included their possible implementation into the clinical practice.
- MeSH
- karcinom * mortalita terapie MeSH
- lidé MeSH
- míra přežití MeSH
- nádorové biomarkery analýza MeSH
- nádory vaječníků * mortalita terapie MeSH
- prognóza MeSH
- Check Tag
- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- anglický abstrakt MeSH
- časopisecké články MeSH
- přehledy MeSH
- Názvy látek
- nádorové biomarkery MeSH
OBJECTIVE: To sum up the knowledge about genetic aspects of ovarian cancer. TYPE OF STUDY: Review article. SETTING: Department of Gynecology and Obstetrics, First Faculty of Medicine, Charles University Prague and General Teaching Hospital Prague, Prague. METHODS: Compilation of data from scientific literature. CONCLUSIONS: Ovarian cancer represents the most lethal malignancy among gynecological tumours. Etiology is still largely unknown. Multistep process, with accumulation of genetic alterations concerning factors with key role in cell regulation - oncogenes, tumor-supressor genes and mismatch-repair genes is supposed. Cytogenetic and molecular-genetic characteristics, in correlation with other molecular-biological parameters extend information of carcinogenesis. The final aim is to create a predictive model for clinical use.
