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. 2021 Mar 4;22(5):2562. doi: 10.3390/ijms22052562

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© 2021 by the authors.

Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).

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Comparison between expressed allele burden (EAB, RNA/cDNA) and variant allele fraction (VAF, gDNA) in indolent systemic mastocytosis (ISM, n = 40) and advanced SM (AdvSM, n = 121). The correlation between EAB and VAF showed a strong linear relationship in ISM patients (A) but only to a lesser extent in AdvSM patients (B). Cohort A represents patients with an EAB/VAF ration ≤ 2 (blue) while cohort B represents patients with an EAB/VAF ratio > 2 (yellow). (C) The overall survival (OS) of cohort B (p = 0.005). In nine patients KIT D816V was below 1 % at cDNA and DNA level. Independent of their ratio they were categorized as “no significant change” (ratio ≤ 2, blue, cohort A).