ArticleEJHaem2025
Monitoring Variant Allele Fraction in VEXAS Syndrome: A Comparison of Digital PCR and Next-Generation Sequencing.
Article in EJHaem, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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1 citing paper in PubMed.
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Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background: VEXAS syndrome is an adult-onset, X-linked autoinflammatory disorder resulting from somatic variations in the Aim: To evaluate the adequacy of the digital PCR (dPCR) to follow up the variant allele frequency (VAF) on response to the treatment in patients with VEXAS. Patient and Methods: This study is a 1-year follow-up of a 76-year-old male VEXAS patient treated with azacitidine. The VAF of Results: There was a high concordance between the two methods. Azacitidine treatment results in a progressive clinical improvement, normalisation of haematologic parameters and a marked reduction in VAF. Conclusion: These findings support dPCR as a sensitive and easy-to-manage tool for monitoring therapeutic responses in VEXAS syndrome, providing a method with a quick and cost-effective response. Trial Registration: The authors have confirmed clinical trial registration is not needed for this submission.
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