| |  Online-Ressource |
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| Verfasst von: | Naumann, Nicole [VerfasserIn]  |
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| | Lübke, Johannes [VerfasserIn] |
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| | Baumann, Sofie [VerfasserIn] |
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| | Schwaab, Juliana [VerfasserIn] |
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| | Hoffmann, Oliver [VerfasserIn] |
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| | Kreil, Sebastian [VerfasserIn] |
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| | Dangelo, Vito [VerfasserIn] |
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| | Reiter, Lukas [VerfasserIn] |
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| | Bugert, Peter [VerfasserIn] |
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| | Kristensen, Thomas [VerfasserIn] |
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| | Sotlar, Karl [VerfasserIn] |
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| | Haselmann, Verena [VerfasserIn] |
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| | Schneider, Sven [VerfasserIn] |
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| | Metzgeroth, Georgia [VerfasserIn] |
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| | Weiß, Christel [VerfasserIn] |
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| | Popp, Henning [VerfasserIn] |
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| | Fabarius, Alice [VerfasserIn] |
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| | Hofmann, Wolf-Karsten [VerfasserIn] |
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| | Cross, Nicholas C. P. [VerfasserIn] |
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| | Reiter, Andreas [VerfasserIn] |
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| | Jawhar, Mohamad [VerfasserIn] |
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| Titel: | Adverse prognostic impact of the KIT D816V transcriptional activity in advanced systemic mastocytosis |
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| Verf.angabe: | Nicole Naumann, Johannes Lübke, Sofie Baumann, Juliana Schwaab, Oliver Hoffmann, Sebastian Kreil, Vito Dangelo, Lukas Reiter, Peter Bugert, Thomas Kristensen, Karl Sotlar, Verena Haselmann, Sven Schneider, Georgia Metzgeroth, Christel Weiss, Henning D. Popp, Alice Fabarius, Wolf-Karsten Hofmann, Nicholas C.P. Cross, Andreas Reiter and Mohamad Jawhar |
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| E-Jahr: | 2021 |
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| Jahr: | 4 March 2021 |
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| Umfang: | 12 S. |
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| Fussnoten: | Gesehen am 10.08.2021 |
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| Titel Quelle: | Enthalten in: International journal of molecular sciences |
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| Ort Quelle: | Basel : Molecular Diversity Preservation International, 2000 |
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| Jahr Quelle: | 2021 |
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| Band/Heft Quelle: | 22(2021), 5, Artikel-ID 2562, Seite 1-12 |
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| ISSN Quelle: | 1422-0067 |
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| | 1661-6596 |
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| Abstract: | In systemic mastocytosis (SM), qualitative and serial quantitative assessment of the KIT D816V mutation is of diagnostic and prognostic relevance. We investigated peripheral blood and bone marrow samples of 161 patients (indolent SM (ISM), n = 40; advanced SM, AdvSM, n = 121) at referral and during follow-up for the KIT D816V variant allele frequency (VAF) at the DNA-level and the KIT D816V expressed allele burden (EAB) at the RNA-level. A round robin test with four participating laboratories revealed an excellent correlation (r > 0.99, R2 > 0.98) between three different DNA-assays. VAF and EAB strongly correlated in ISM (r = 0.91, coefficient of determination, R2 = 0.84) but only to a lesser extent in AdvSM (r = 0.71; R2 = 0.5). However, as compared to an EAB/VAF ratio ≤2 (cohort A, 77/121 patients, 64%) receiver operating characteristic (ROC) analysis identified an EAB/VAF ratio of >2 (cohort B, 44/121 patients, 36%) as predictive for an advanced phenotype and a significantly inferior median survival (3.3 vs. 11.7 years; p = 0.005). In terms of overall survival, Cox-regression analysis was only significant for the EAB/VAF ratio >2 (p = 0.006) but not for VAF or EAB individually. This study demonstrates for the first time that the transcriptional activity of KIT D816V may play an important role in the pathophysiology of SM. |
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| DOI: | doi:10.3390/ijms22052562 |
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| URL: | Bitte beachten Sie: Dies ist ein Bibliographieeintrag. Ein Volltextzugriff für Mitglieder der Universität besteht hier nur, falls für die entsprechende Zeitschrift/den entsprechenden Sammelband ein Abonnement besteht oder es sich um einen OpenAccess-Titel handelt.
Volltext: https://doi.org/10.3390/ijms22052562 |
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| | Volltext: https://www.mdpi.com/1422-0067/22/5/2562 |
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| | DOI: https://doi.org/10.3390/ijms22052562 |
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| Datenträger: | Online-Ressource |
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| Sprache: | eng |
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| Sach-SW: | <i>KIT</i> D816V |
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| | advanced SM |
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| | allele burden |
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| | survival |
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| | variant allele frequency |
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| K10plus-PPN: | 1766020860 |
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| Verknüpfungen: | → Zeitschrift |
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Adverse prognostic impact of the KIT D816V transcriptional activity in advanced systemic mastocytosis / Naumann, Nicole [VerfasserIn]; 4 March 2021 (Online-Ressource)
