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Detection of minimal residual disease in bone marrow an peripheral blood in patients with breast cancer.
Čabiňaková, Michaela ; Tesařová, Petra (advisor) ; Konopásek, Bohuslav (referee) ; Macek, Milan (referee)
Introduction: Simultaneous detection of disseminated tumor cells (DTCs) and circulating tumor cells (CTCs) was shown to be associated with an especially poor prognosis and increased incidence of disease-related deaths in non-metastatic breast cancer patients. We analyzed the occurance of DTCs in bone marrow and CTCs in peripheral blood in patients with primary breast cancer, we evaluated the correlation of their presence with other prognostic markers and we investigated the changes in DTCs/CTCs number at different time points during treatment. Materials and methods: Blood of 50 patients with primary breast cancer were used for immunomagnetic separation and detection of circulating tumor cells using the commercial available system the AdnaTest Breast Cancer™ (AdnaGen GmbH, Langenhagen, Germany). Bone marrow aspirates from 50 patients were analyzed for DTCs by immunocytochemistry using the pancytokeratin antibody conjugated with FITC (Monoclonal Anti-Cytokeratin antibody F3418, Sigma Aldrich, USA). Results: DTCs were identified in 30% (15/50) and CTCs in 22% (11/50) of patients. We found that DTC positivity could point to a significantly high risk of larger primary tumor size (p- value 0.011) and significantly higher risk of lymph node involvement (p- value 0.002). For CTC positivity, no such...
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Clinical and genetic aspects of familial breast cancer: Frequency of recurrent mutations in BRCA1 and BRCA2 genes in Czech republic and the role of NBN gene
Matějů, Martin ; Novotný, Jan (advisor) ; Konopásek, Bohuslav (referee) ; Vaňásek, Jaroslav (referee)
Summary: Background: An increased risk for development of hereditary breast cancer is associated with germline mutations in BRCA1/2 and the influence of NBN mutations is also supposed. The aim of this study is to specify the frequency of recurrent mutations in BRCA1/2 in unselected breast cancer patients and the frequency of most common pathogenic mutations in NBN in Czech republic, to assess current criteria for genetic testing and to consider the addition of NBN to the tested genes. Methods: Screening for recurrent mutations 5382insC and 300T>G in BRCA1 was performed by RFLP, screening for mutations in exon 11 of BRCA1 was performed by PTT, screening for mutations in a selected region of exon 11 of BRCA2 by DHPLC, and screening for mutations in exon 6 of NBN by HRMA. All the mutations were confirmed by direct sequencing. Results: In 679 unselected breast cancer patients 7 carriers of 5382insC, 3 of 300T>G, and 4 of other mutations in BRCA1 were identified. 2 locally prevalent mutations were found in BRCA2. In 730 controls only one 5382insC BRCA1 mutation was identified. Out of 5 NBN mutations found in 600 high-risk patients two were 657del5 and one R215W. A total of 8 NBN mutation carriers were identified among 703 breast cancer patients, 2 of them 657del5 carriers and three R215W carriers. In 915...
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Detection of minimal residual disease in bone marrow an peripheral blood in patients with breast cancer.
Čabiňaková, Michaela ; Tesařová, Petra (advisor) ; Konopásek, Bohuslav (referee) ; Macek, Milan (referee)
Introduction: Simultaneous detection of disseminated tumor cells (DTCs) and circulating tumor cells (CTCs) was shown to be associated with an especially poor prognosis and increased incidence of disease-related deaths in non-metastatic breast cancer patients. We analyzed the occurance of DTCs in bone marrow and CTCs in peripheral blood in patients with primary breast cancer, we evaluated the correlation of their presence with other prognostic markers and we investigated the changes in DTCs/CTCs number at different time points during treatment. Materials and methods: Blood of 50 patients with primary breast cancer were used for immunomagnetic separation and detection of circulating tumor cells using the commercial available system the AdnaTest Breast Cancer™ (AdnaGen GmbH, Langenhagen, Germany). Bone marrow aspirates from 50 patients were analyzed for DTCs by immunocytochemistry using the pancytokeratin antibody conjugated with FITC (Monoclonal Anti-Cytokeratin antibody F3418, Sigma Aldrich, USA). Results: DTCs were identified in 30% (15/50) and CTCs in 22% (11/50) of patients. We found that DTC positivity could point to a significantly high risk of larger primary tumor size (p- value 0.011) and significantly higher risk of lymph node involvement (p- value 0.002). For CTC positivity, no such...
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Clinical and genetic aspects of familial breast cancerFrequency of recurrent mutations in BRCA1 and BRCA2 genes in Czech republic and the role of NBN gene
Matějů, Martin ; Novotný, Jan (advisor) ; Konopásek, Bohuslav (referee) ; Vaňásek, Jaroslav (referee)
Summary: Background: An increased risk for development of hereditary breast cancer is associated with germline mutations in BRCA1/2 and the influence of NBN mutations is also supposed. The aim of this study is to specify the frequency of recurrent mutations in BRCA1/2 in unselected breast cancer patients and the frequency of most common pathogenic mutations in NBN in Czech republic, to assess current criteria for genetic testing and to consider the addition of NBN to the tested genes. Methods: Screening for recurrent mutations 5382insC and 300T>G in BRCA1 was performed by RFLP, screening for mutations in exon 11 of BRCA1 was performed by PTT, screening for mutations in a selected region of exon 11 of BRCA2 by DHPLC, and screening for mutations in exon 6 of NBN by HRMA. All the mutations were confirmed by direct sequencing. Results: In 679 unselected breast cancer patients 7 carriers of 5382insC, 3 of 300T>G, and 4 of other mutations in BRCA1 were identified. 2 locally prevalent mutations were found in BRCA2. In 730 controls only one 5382insC BRCA1 mutation was identified. Out of 5 NBN mutations found in 600 high-risk patients two were 657del5 and one R215W. A total of 8 NBN mutation carriers were identified among 703 breast cancer patients, 2 of them 657del5 carriers and three R215W carriers. In 915...
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The analysis of effectiveness and undesirable effects of the radical chemoradiotherapy of anal cancer
Vácha, Ondřej ; Vítek, Pavel (advisor) ; Konopásek, Bohuslav (referee)
The subject of presented bachelor thesis is an analysis of efficacy and side effects in chemoradiotherapy of anal canal cancer. High anticancer activity besides severe adverse effects are specific for anal canal cancer. Adverse effect may finally negatively influence even overall survival. The data of 110 patients treated within the last 20 years at the Institute of Radiation Oncology, University Hospital Na Bulovce, Prague were analyzed to determine an impact of radiation delivery technique, chemotherapy and other variables on treatment results. Common chemoradiation regimen of mitomycin + 5-FU and radiation up to 60 Gy was employed. The single-institution data confirm high efficacy of standard treatment in terms of survival and relapse rate. There is a substantial rate of acute and delayed toxicity. Therefore there is a significant reduction of chemotherapy in elderly patients. However the survival and time to relapse data do not significantly differ in elderly patients. The age at diagnosis as a continuous variable does not significantly influence either survival or time to relapse. More advanced radiation delivery technique IMRT brings significantly less side effects compared to classic 2D and 3D conformal radiation therapy. Conclusions: High toxicity of standard chemoradiation for anal canal...
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