Work

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

Year: 2025

Type: article

Abstract: 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 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

Source: eJHaem

DOI: 10.1002/jha2.70177

Authors: Alba Exposito‐Bey, Marco Antonio Montes‐Cano, Salvador Payán‐Pernía, José Raúl García‐Lozano, María Francisca González‐Escribano

Institutions: Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocío, Universidad de Sevilla, Consejo Superior de Investigaciones Científicas

Language: English

Topic: Acute Myeloid Leukemia Research

Subfield: Hematology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $2,860