Monitoring Variant Allele Fraction in VEXAS Syndrome: A Comparison of Digital PCR and Next-Generation Sequencing.

ABSTRACT:

Background

VEXAS syndrome is an adult-onset, X-linked autoinflammatory disorder resulting from somatic variations in the UBA1 gene.

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 UBA1 was serially quantified using next-generation sequencing (NGS) and dPCR.

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 a

SUBMITTER: Exposito-Bey A 

PROVIDER: S-EPMC12637854 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature