Gudrun göhring

CML is a rare form of leukemia among children and adolescents, but one of the common hematological diseases in older age.

Genes, Chromosomes and Cancer , 54 12 , In eosinophilia-associated myeloproliferative neoplasms MPN-eo , constitutive activation of protein tyrosine kinases TK as consequence of translocations, inversions, or insertions and creation of TK fusion genes is recurrently observed. The fusion proteins identified by 5? The partner genes contain domains like coiled-coil structures, which are likely to cause dimerization and activation of the TK. In all patients, imatinib induced rapid and durable complete remissions. Downloads from ePrints over the past year.

Gudrun göhring

Niemeyer , Brigitte Schlegelberger; Complex karyotype newly defined: the strongest prognostic factor in advanced childhood myelodysplastic syndrome. Blood ; 19 : — To identify cytogenetic risk factors predicting outcome in children with advanced myelodysplastic syndrome, overall survival of children prospectively enrolled in European Working Group of Myelodysplastic Syndrome in Childhood studies was evaluated with regard to karyotypic complexity. Structurally complex constitutes a new definition of complex karyotype characterized by more than or equal to 3 chromosomal aberrations, including at least one structural aberration. Five-year overall survival in patients with more than or equal to 3 clonal aberrations, which were not structurally complex, did not differ from that observed in patients with normal karyotype. The presence of a structurally complex karyotype was the strongest independent prognostic marker predicting poor outcome in children with advanced myelodysplastic syndrome. Karyotypic complexity has been reported to be associated with a poor prognosis in myeloid neoplasia. Most studies defined a complex karyotype as more than or equal to 3 independent abnormalities. This study is registered at www. All patients younger than 18 years with adequate cytogenetic studies and advanced MDS ie, refractory anemia with excess blasts or refractory anemia with excess blasts in transformation , 9 , 10 enrolled in studies EWOG-MDS 98 www. In both studies, therapy recommendation consisted of upfront hematopoietic stem cell transplantation HSCT. Institutional review board approval was obtained for both EWOG studies from all participating institutions. Cytogenetic analyses of bone marrow cells were performed according to standard procedures. Cytogenetic findings were centrally reviewed G.

No abstract available. Author: Georgia Metzgeroth. Cell Stem Cell.

Nat Commun ;13 1 DOI: Epub Mar Cell Dev. Epub Jan Rapid and efficient generation of oligodendrocytes from human induced pluripotent stem cells using transcription factors. Potent and reversible lentiviral vector restriction in murine induced pluripotent stem cells.

Blood ; 4 : — IDH2 mutations of amino acid or could be identified in This study was registered at www. In an attempt to discover unknown molecular alterations in patients with acute myeloid leukemia AML , whole genome sequencing was performed on AML patients. In the present study, we performed a comprehensive analysis of mutations occurring in exon 4 of IDH2 including both codons R and R in patients with CN-AML in the context of other known prognostic markers. These patients were intensively treated with a uniform protocol in 2 consecutive multicenter trials. Overall, our data indicate that IDH2 mutations in codons R and R are frequent but have no prognostic implications in patients with CN-AML when considered alone or in combination with IDH1 mutations and treated with these intensive protocols. Of the latter, 45 had a core-binding factor leukemia, 15 had aberrations of chromosome band 11q23, 13 had a complex karyotype, 12 had an isolated trisomy 8, 7 had a monosomy 7, 5 had aberrations of chromosome 3q, 4 had a del 9q , 3 had a t 6;9 , and 26 had various other aberrations. Details of the treatment protocols have been previously reported.

Gudrun göhring

Blood ; Supplement 1 : — Introduction: We evaluated low coverage whole genome sequencing WGS of acute myeloid leukemia AML patients using long read Oxford Nanopore Technology ONTseq for karyotyping and compared the results and the frequency of patients with myelodysplasia-related cytogenetic abnormalities according to previous and current AML classifications with conventional cytogenetics CG. Ten samples were sequenced independently in two different laboratories. Fifty samples were sequenced prospectively from newly diagnosed de novo AML patients. Analysis of the ten duplicate samples established a high reproducibility of ONTseq. Two of these 7 discrepant patients had translocations as their sole cytogenetic abnormality [t 8;21 and t 9;11 ], which cannot be detected by low coverage genome ONTseq. Patients with chromosomal abnormalities had a median of 29 range and 30 range chromosomal bands with CNVs according to ONTseq and CG, respectively. Fifty of the patients were sequenced prospectively at time of diagnosis. The median age of these patients was 70 years range and all patients had de novo AML. The median time for library preparation for prospectively analyzed patients was hours, for ONTseq 24 hours and for bioinformatic analysis hours.

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Berna Beverloo. This repository has been built using EPrints software , developed at the University of Southampton, but available to everyone to use. View Metrics. Genetic pathways in therapy-related myelodysplasia and acute myeloid leukemia. Sign in via your Institution. Statistical analysis of the different definitions of complex karyotype had to take into account that some patients fulfilled the criteria of more than one definition. Eur J Haematol ;98 5 Cell Biol Int. Sci Transl Med. J Cell Mol Med. Science ; DOI: If you continue without changing your settings, we will assume that you are happy to receive cookies on the University of Southampton website.

Philadelphia chromosome-positive chronic myeloid leukemia CML is cytogenetically characterized by the classic translocation t 9;22 q34;q11 , whereas additional non-Philadelphia aberrations nPhAs have been studied extensively in adult patients with CML, knowledge on nPhAs in pediatric patients with CML is still sparse. Chromosome 15 was recurrently involved in variant translocations.

Haas , Oskar A. Haferlach, Claudia. View Metrics. Most studies defined a complex karyotype as more than or equal to 3 independent abnormalities. The different definitions of complex karyotype coded in a variable with k-categories were transformed into k-1 dummy variables and added to the model. To identify cytogenetic risk factors predicting outcome in children with advanced myelodysplastic syndrome, overall survival of children prospectively enrolled in European Working Group of Myelodysplastic Syndrome in Childhood studies was evaluated with regard to karyotypic complexity. Expansion of functional personalized cells with specific transgene combinations. Institutional review board approval was obtained for both EWOG studies from all participating institutions. The presence of a structurally complex karyotype was the strongest independent prognostic marker predicting poor outcome in children with advanced myelodysplastic syndrome. A Probability of 5-year OS for children with advanced primary or secondary MDS according to cytogenetic stratification. Author: Alice Fabarius.