Adverse Prognostic Impact of the KIT D816V Transcriptional Activity in Advanced Systemic Mastocytosis.

doi:10.3390/ijms22052562

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Article

Adverse Prognostic Impact of the KIT D816V Transcriptional Activity in Advanced Systemic Mastocytosis.

International journal of molecular sciences - 4 Mar 2021

Naumann Nicole, Lübke Johannes, Baumann Sofie, Schwaab Juliana, Hoffmann Oliver, Kreil Sebastian, Dangelo Vito, Reiter Lukas, Bugert Peter, Kristensen Thomas, Sotlar Karl, Haselmann Verena, Schneider Sven, Metzgeroth Georgia, Weiss Christel, Popp Henning D, Fabarius Alice, Hofmann Wolf-Karsten, Cross Nicholas C P, Reiter Andreas, Jawhar Mohamad

Abstract excerpt

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...

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PMID: 33806359
DOI: 10.3390/ijms22052562
PMCID: PMC7961551

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