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Analysis and detection of cryptic chromosomal aberrations in chronic lymphocytic leukemia
Chronic lymphocytic leukemia (CLL) is the most frequent leukemia of adults in Western countries. The overall survival of CLL patients is different according to the detected acquired genetic, especially chromosomal aberrations. Particularly important are the genes TP53, ATM, and BIRC3, which are associated with poor prognosis. Many techniques have been used for the detection of disease associated chromosomal abnormalities, such as banding cytogenetic (GTG-banding) or molecular cytogenetic analyses. However, especially GTG-banding is hampered in diagnostics of CLL due to the low mitotic index of the aberrant cells. Interphase fluorescence in situ hybridization (iFISH) was introduced to overcome this limitation; however this leads to underestimation of the complexity in chromosomal rearrangements. Multiplex ligation dependent probe amplification (MLPA) can be a way out here, as it can detect multiple chromosomal aberrations simultaneously. The present work aimed to analyze and detect cryptic chromosomal aberrations in 150 CLL patients, by studying them comparatively for aberration detection rates using GTG-banding, iFISH and/or MLPA, in addition to array-based comparative genomic hybridization (array-CGH) in selected cases. Overall 163 acquired aberrations in 67 of 85 samples (~79%) were identified. Based on that data a cost efficient scheme was suggested combining the different techniques for better diagnosis and characterization of cryptic chromosomal aberrations in CLL. Additionally an assessment of BIRC3 alterations was performed on 117 CLL, and 45 B-ALL cases. BIRC3 aberrations were detected in 23/117 (~20%) of CLL and 2/45 (~4%) of B-ALL cases. Based on these results ATM deletions may, but must not always be associated with BIRC3 abnormalities. Thus BIRC3 screening should be considered as independent diagnostic parameter of CLL in future. Finally, 150 CLL patients have been tested for their status of TP53 deletion. Obviously cases with isochromosome 17q and deletion of TP53 were associated with more complex ...
Analysis and detection of cryptic chromosomal aberrations in chronic lymphocytic leukemia
Chronic lymphocytic leukemia (CLL) is the most frequent leukemia of adults in Western countries. The overall survival of CLL patients is different according to the detected acquired genetic, especially chromosomal aberrations. Particularly important are the genes TP53, ATM, and BIRC3, which are associated with poor prognosis. Many techniques have been used for the detection of disease associated chromosomal abnormalities, such as banding cytogenetic (GTG-banding) or molecular cytogenetic analyses. However, especially GTG-banding is hampered in diagnostics of CLL due to the low mitotic index of the aberrant cells. Interphase fluorescence in situ hybridization (iFISH) was introduced to overcome this limitation; however this leads to underestimation of the complexity in chromosomal rearrangements. Multiplex ligation dependent probe amplification (MLPA) can be a way out here, as it can detect multiple chromosomal aberrations simultaneously. The present work aimed to analyze and detect cryptic chromosomal aberrations in 150 CLL patients, by studying them comparatively for aberration detection rates using GTG-banding, iFISH and/or MLPA, in addition to array-based comparative genomic hybridization (array-CGH) in selected cases. Overall 163 acquired aberrations in 67 of 85 samples (~79%) were identified. Based on that data a cost efficient scheme was suggested combining the different techniques for better diagnosis and characterization of cryptic chromosomal aberrations in CLL. Additionally an assessment of BIRC3 alterations was performed on 117 CLL, and 45 B-ALL cases. BIRC3 aberrations were detected in 23/117 (~20%) of CLL and 2/45 (~4%) of B-ALL cases. Based on these results ATM deletions may, but must not always be associated with BIRC3 abnormalities. Thus BIRC3 screening should be considered as independent diagnostic parameter of CLL in future. Finally, 150 CLL patients have been tested for their status of TP53 deletion. Obviously cases with isochromosome 17q and deletion of TP53 were associated with more complex ...
Analysis and detection of cryptic chromosomal aberrations in chronic lymphocytic leukemia
Alhourani, Eyad (author) / Liehr, Thomas / Theißen, Günter / Verdorfer, Irmgard
2017-01-01
Theses
Electronic Resource
English
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