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Chromosomal aberrations in childhood acute leukemia.
Sládková, Lucie ; Zemanová, Zuzana (advisor) ; Šárová, Iveta (referee)
1 Abstract Leukemias are the most common cancer diseases in childhood. The majority of cases represent acute leukemias, the most common of which is acute lymphoblastic leukemia (ALL), the second most frequent subtype is acute myeloid leukemia (AML). One of the basic laboratory examinations at the time of diagnosis is the cytogenetic analysis of the karyotype of leukemic cells in which we are looking for the recurrent chromosomal aberrations. These changes in the structure or number of the chromosomes can be found in up to 90 % of patients and the exact prognostic significance is known for most of them. In ALL, the findings of high hyperdiploidy (>50 chromosomes) and translocation t(12;21)(p13;q22) are considered the most significant prognostic factor associated with good prognosis and translocations involving the KMT2A gene in the 11q23 region are associated with poor prognosis. In AML, the most frequent aberrations are t(8;21)(q22;q22), t(15;17)(q24;q21) and inv(16)(p13;q22) which are considered indicator of good prognosis. An important unfavourable prognostic finding in AML are the KMT2A gene rearrangements, the most common of which is the translocation t(9;11)(q23;p13.1). Nowadays, there are many ways to detect chromosomal aberrations in leukemic cells. G-banding is the most common method of classical...
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Molecular cytogenetic analysis of glial cells and its contribution to the classification of brain tumors.
Šediváková, Kristýna ; Zemanová, Zuzana (advisor) ; Král, Jiří (referee)
Brain gliomas represent a heterogeneous group of tumors of various histological subtypes which differ according to their response to treatment and prognosis. Tumors created from astrocytes and oligodendrocytes occur most often. Histological classification of gliomas is often subjective, as well as their treatment today is still problematic. The aim of this diploma thesis was to carry out a detailed molecular cytogenetic analysis of the genome of tumor cells in patients with histologically confirmed brain gliomas of different subtypes and stages of malignancy, look for recurrent aberration-specific subtypes and assess their potential role in the development and progression of cancer. To observation specific frequency known aberrations in different subtypes of brain tumors, we used the method of interphase FISH (I-FISH) with a panel of specific locus and / or centromeric DNA probes. The whole genome analysis and detection of cryptic unbalanced changes in the genome of tumor cells, we used the method of SNP array. Combining methods I- FISH and SNP array was detected not only the known chromosomal changes that are typical of the different subtypes of tumors, but also new or uncommon recurrent aberrations. In patients with low-grade gliomas are the most commonly observed acquired UPD (aUPD) on the short...
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Genomic abberations in brain glioma cells
Šediváková, Kristýna ; Zemanová, Zuzana (advisor) ; Březinová, Jana (referee)
Brain gliomas represent a heterogeneous group of tumors of various histological subtypes which differ according to their response to treatment and prognosis. Tumors created from astrocytes and oligodendrocytes occur most often. During brain tumor onset and progression, the genomic aberrations in brain glioma cells play an important role. Diagnostic detection of diffuse glioma tumors based on cell morphology is subjective. Due to their locations and diffuse character, glioma treatment is still a problematical issue. Therefore, new diagnostic and prognostic techniques must be developed which would make a more effective treatment possible, resulting thus in lower morbidity and mortality rates. An option is to sub-classify patients into diagnostic groups based on detection of specific chromosome aberrations detected by combination of I-FISH and microarray techniques. Use of molecular cytogenetic methods not only contributes to more precise diagnosis and prognosis for patients with diffuse glioms, but also to better understanding of the pathogenesis of brain tumors. Keywords: Brain glioma, genomic aberrations, astrocytic tumors, oligodendroglial tumors, molecular cytogenetic methods
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