Gudrun göhring

T1 - Complex karyotype newly defined: the strongest prognostic factor in advanced childhood myelodysplastic syndrome.

CML is a rare form of leukemia among children and adolescents, but one of the common hematological diseases in older age. A number of clinical findings in pediatric CML suggest differences of leukemia cell or host biology compared with CML in adults. Aim of the clinical CMLpaed registry and the accompanying research projects is to understand the age dependent molecular and cellular features of the disease and their impact on the clinical management. J Cell Mol Med. Front-line imatinib treatment in children and adolescents with chronic myeloid leukemia: results from a phase III trial.

Gudrun göhring

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. Retrovirology ;14 1 Detailed comparison of retroviral vectors and promoter configurations for stable and high transgene expression in human induced pluripotent stem cells. Gene Ther ;24 5 Sci Rep ;7 1 Eur J Haematol ;98 5 Stem Cell Res ; Gene correction of HAX1 reversed Kostmann disease phenotype in patient-specific induced pluripotent stem cells.

Cytogenetic analyses of bone marrow cells were performed according to standard procedures. Affiliations Please enter your affiliations.

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.

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.

Gudrun göhring

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. Preparation of mononuclear cells and analysis of prognostic markers were performed as previously reported.

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Marco Zecca , Marco Zecca. Gene Ther ;24 5 Copyright by American Society of Hematology. DOI: doi Table 1 Multivariate analysis for probability of overall survival in consecutive children with advanced MDS and different karyotypic complexities. New insights into the prognostic impact of the karyotype in MDS and correlation with subtypes: evidence from a core dataset of patients. Elisabeth R. View full fingerprint. Karyotypes were grouped in the following hierarchical order: more than or equal to 5 aberrations, 3 or 4 aberrations, structurally complex, monosomy 7 with or without other aberrations , normal karyotype, other karyotypes. 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. Eur J Haematol ;98 5

In patients with low and intermediate risk myelodysplastic syndrome and deletion 5q del 5q treated with lenalidomide, monitoring of cytogenetic response is mandatory, since patients without cytogenetic response have a significantly increased risk of progression. Therefore, we have reviewed cytogenetic data of patients. Patients were analyzed by karyotyping and fluorescence in situ hybridization.

Sign In. Haferlach, Claudia. Volume , Issue Cell Stem Cell ;28 5 Results and discussion. Epub Jun 2. First Edition Alert. Cytometry A. Henrik Hasle , Henrik Hasle. Abstract 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. Biphasic modulation of Wnt signaling supports efficient foregut endoderm formation from human pluripotent stem cells. The partner genes contain domains like coiled-coil structures, which are likely to cause dimerization and activation of the TK. Suttorp M, et al.