Clinical validation of a new commercial highly sensitive KIT D816V mutation analysis in mastocytosis

Abstract

Impaired virus replication and decreased innate immune responses to viral infections in nasal epithelial cells from patients with allergic rhinitis.

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

“…The serial quantitative assessment of the KIT D816V expressed allele burden (EAB) by a real time RT-quantitative PCR (RT-qPCR) assay during treatment with the KIT-inhibitor midostaurin is a strong and independent marker for response, progression and survival [8,9]. DNA-based quantitative assays (variant allele frequency, VAF) are more widely used than RNA-based assays [10,11], but only limited data exist concerning the reproducibility between different assays and the correlation between the DNA-and RNA-based quantitative assays [12][13][14][15][16]. We, thus, sought to quantitatively assess KIT D816V at both the DNA-and RNA-levels in bone marrow (BM) and peripheral blood (PB) samples obtained at referral and during follow-up from patients with ISM and AdvSM.…”