24 research outputs found

    Memorandum Nachhaltige Informationsgesellschaft

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    Der zunehmende Einsatz von Informations- und Kommunikationstechnologien begünstigt nicht automatisch eine nachhaltige, dauerhaft umweltgerechte Entwicklung. Es ist politischer Gestaltungswille erforderlich, wenn sich auf dem Weg in eine globale Informationsgesellschaft eine nachhaltige Entwicklung ergeben soll. Die Autoren zeigen Chancen und Risiken auf, die auf dem Weg in eine globale Informationsgesellschaft für eine nachhaltige Entwicklung entstehen. Daraus werden Empfehlungen zur Gestaltung einer nachhaltigen Informationsgesellschaft abgeleitet. Der Text richtet sich an Wissenschaftlerinnen und Wissenschaftler, die mit Informatik oder verwandten Gebieten befasst oder auf dem Gebiet der nachhaltigen Entwicklung tätig sind, an Lehrende und Lernende, an Medienschaffende und die interessierte Öffentlichkeit sowie an Entscheidungsverantwortliche in Politik und Wirtschaft. Das Memorandum soll die Diskussion über eine "Nachhaltige Informationsgesellschaft" fördern. Es soll anregen, Forschungs- und Entwicklungsergebnisse sowie Beispiele einer "guten Praxis", die zu einer nachhaltigen Informationsgesellschaft hinführen können, allgemein zugänglich darzustellen und umzusetzen

    Fusion of PDGFRB to MPRIP, CPSF6, and GOLGB1in three patients with eosinophilia-associated myeloproliferative neoplasms

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    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 most commonly involved TK and their potential TK inhibitors include PDGFRA at 4q12 or PDGFRB at 5q33 (imatinib), FGFR1 at 8p11 (ponatinib), and JAK2 at 9p24 (ruxolitinib). We here report the identification of three new PDGFRB fusion genes in three male MPN-eo patients: MPRIP-PDGFRB in a case with t(5;17)(q33;p11), CPSF6-PDGFRB in a case with t(5;12)(q33;q15), and GOLGB1-PDGFRB in a case with t(3;5)(q13;q33). The fusion proteins identified by 5?-rapid amplification of cDNA ends polymerase chain reaction (PCR) or DNA-based long distance inverse PCR are predicted to contain the TK domain of PDGFRB. 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

    Incidence and prognostic impact of cytogenetic aberrations in patients with systemic mastocytosis

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    The clinical behavior of systemic mastocytosis (SM) is strongly associated with activating mutations in KIT (D816V in >80% of cases), with the severity of the phenotype influenced by additional somatic mutations, e.g. in SRSF2, ASXL1 or RUNX1. Complex molecular profiles are frequently associated with the presence of an associated hematologic neoplasm (AHN) and an unfavorable clinical outcome. However, little is known about the incidence and prognostic impact of cytogenetic aberrations. We analyzed cytogenetic and molecular characteristics of 109 patients (KIT D816V+, n=102, 94%) with indolent (ISM, n=26) and advanced SM (n=83) with (n=73, 88%) or without AHN. An aberrant karyotype was identified in SM-AHN (16/73, 22%) patients only. In patients with an aberrant karyotype additional somatic mutations were identified in 12/16 (75%) patients. Seven of 10 (70%) patients with a poor-risk karyotype, e.g. monosomy 7 or complex karyotype, and 1/6 (17%) patients with a good-risk karyotype progressed to secondary acute myeloid leukemia (n=7) or mast cell leukemia (n=1) within a median of 40 months (range 2-190, P=0.04). In advanced SM, the median overall survival (OS) of poor-risk karyotype patients was significantly shorter than in good-risk/normal karyotype patients (4 vs. 39 months; hazard ratio 11.7, 95% CI 5.0-27.3; P<0.0001). Additionally, the shortened OS in patients with poor-risk karyotype was independent from the mutation status. In summary, a poor-risk karyotype is an independent prognostic variable in advanced SM. Cytogenetic and molecular analyses should be routinely performed in all patients with advanced SM±AHN because these investigations greatly support prognostication and treatment decisions. This article is protected by copyright. All rights reserved
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