Anne Tyybäkinoja

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In basic cytogenetic analysis 40–50% of acute myeloid leukemia (AML) patients show a normal karyotype. Karyotypically normal AML is a clinically and molecularly heterogeneous group with gene expression changes and frequently mutated genes, such as NPM1 and FLT3 (reviewed by Mrozek et al). Because cytogenetic alterations in the leukemic cells are important(More)
The use of molecular markers in the diagnostics of gliomas aids histopathological diagnosis and allows their further classification into clinically significant subgroups. The aim of this study was to characterize the methylation pattern of the O(6) -methylguanine-DNA methyltransferase (MGMT) promoter, gene copy number aberrations, and isocitrate(More)
Gene amplifications occur rarely in hematologic neoplasms. We characterized two cases of acute myeloid leukemia (AML) with marker chromosomes and 11q23-25 amplicons. Case 1 was a 14-year-old male with an additional ring of chromosome 11 material as the sole karyotypic abnormality, as determined by G-banding and multicolor fluorescence in situ hybridization.(More)
Approximately 40-50% of acute myeloid leukemias (AMLs) show cytogenetically normal karyotypes. These karyotypically normal AMLs are prognostically heterogeneous and show various molecular alterations. In order to explain leukemogenesis or clinical progression of the disease, the genomic characterization of these molecular alterations is needed to find new(More)
MicroRNA (miRNA) deregulation is associated with progression and treatment outcome in various types of cancers. To identify miRNAs related to therapeutic response, we applied an miRNA microarray followed by PCR verification of 33 available diagnostic bone marrow core biopsies from 33 acute myeloid leukemia patients including 15 chemoresistant and 18(More)
Genetic alterations of the short arm of chromosome 9 are frequent in acute lymphoblastic leukemia. We performed targeted sequencing of 9p region in 35 adolescent and adult acute lymphoblastic leukemia patients and sought to investigate the sensitivity of detecting copy number alterations in comparison with array comparative genomic hybridization (aCGH), and(More)
We adopted an integrated analysis of gene copy number alterations (CNAs), copy number neutral loss of heterozygosity (CNN LOH), and microRNA (miRNA) profiling in 21 adult acute lymphoblastic leukemia (ALL) patients. This study revealed the most frequent CNAs to be at chromosomes 9p, 7, and 17 and recurrent CNN LOH at 5p, 9p, and Xq. As for the most(More)
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