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Analysis and detection of cryptic and complex chromosomal aberrations in acute leukemia
Acute leukemia (AL) is a heterogeneous and aggressive disease, with an incidence of approximately 5 cases per 100.000 individuals and per year. It consists of several subgroups with different specific cytogenetic and molecular genetic aberrations, clinical presentations and outcomes. Nowadays, molecular (cyto)genetic tools provide substantially to identify previously non-detectable, so-called cryptic chromosomal aberrations in AL. Thus, the overall goals of this thesis were (i) to identify and characterize the rate of cryptic alterations in CN-AL, (ii) to detect submicroscopic structural copy number alterations (CNAs) in AL and (iii) to identify yet unreported clonal acquired chromosomal rearrangements (therefore also 8 complex rearranged AL cases were studied) and align them with clinical outcome, as far as possible. This work included 103 AL cases and they were studies comprehensively using high resolution fluorescence in situ hybridization (FISH) based-banding technique, locus-specific probes (LSPs), array-based comparative genomic hybridization (aCGH), multiplex-ligation dependent probe amplification (MLPA) and analyses of the breakpoints by genomic browsers. DNA sequencing and single nucleotide polymorphism array-based comparative genomic hybridization (SNP array-CGH) have been used to detect mutations for a number of target genes that are known to key roles in lymphoid and myeloid development. Cryptic chromosomal aberrations were identified in 34% of cytogenetically normal acute lymphoblastic leukemia (CN-ALL) and in 28% of cytogenetically normal acute myeloid leukemia (CN-AML) cases respectively. Surprisingly, we detected high rates of CNAs in CN-ALL, whereas AML cases showed lower rates. Besides, we identified three new candidate genes; CDK6 (7q12.2), CDH2 (15q26.2) and DCC (18q21.2) that may play a key role in leukemogensis and progression. In conclusion, the present study highlights, that most likely all CN-AL cases hold cryptic genomic alterations and that complex AL still are a valuable source for ...
Analysis and detection of cryptic and complex chromosomal aberrations in acute leukemia
Acute leukemia (AL) is a heterogeneous and aggressive disease, with an incidence of approximately 5 cases per 100.000 individuals and per year. It consists of several subgroups with different specific cytogenetic and molecular genetic aberrations, clinical presentations and outcomes. Nowadays, molecular (cyto)genetic tools provide substantially to identify previously non-detectable, so-called cryptic chromosomal aberrations in AL. Thus, the overall goals of this thesis were (i) to identify and characterize the rate of cryptic alterations in CN-AL, (ii) to detect submicroscopic structural copy number alterations (CNAs) in AL and (iii) to identify yet unreported clonal acquired chromosomal rearrangements (therefore also 8 complex rearranged AL cases were studied) and align them with clinical outcome, as far as possible. This work included 103 AL cases and they were studies comprehensively using high resolution fluorescence in situ hybridization (FISH) based-banding technique, locus-specific probes (LSPs), array-based comparative genomic hybridization (aCGH), multiplex-ligation dependent probe amplification (MLPA) and analyses of the breakpoints by genomic browsers. DNA sequencing and single nucleotide polymorphism array-based comparative genomic hybridization (SNP array-CGH) have been used to detect mutations for a number of target genes that are known to key roles in lymphoid and myeloid development. Cryptic chromosomal aberrations were identified in 34% of cytogenetically normal acute lymphoblastic leukemia (CN-ALL) and in 28% of cytogenetically normal acute myeloid leukemia (CN-AML) cases respectively. Surprisingly, we detected high rates of CNAs in CN-ALL, whereas AML cases showed lower rates. Besides, we identified three new candidate genes; CDK6 (7q12.2), CDH2 (15q26.2) and DCC (18q21.2) that may play a key role in leukemogensis and progression. In conclusion, the present study highlights, that most likely all CN-AL cases hold cryptic genomic alterations and that complex AL still are a valuable source for ...
Analysis and detection of cryptic and complex chromosomal aberrations in acute leukemia
Othman, Moneeb AK (author) / Liehr, Thomas / Damen, Wim / Verdorfer, Irmgard
2016-01-01
Theses
Electronic Resource
English
Doktorarbeit , thesis , Leukämie , ddc:610
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