VEXAS syndrome: complete molecular remission after hypomethylating therapy

Research output: Contribution to journalResearch articleContributedpeer-review

Contributors

Abstract

The VEXAS syndrome, a genetically defined autoimmune disease, associated with various hematological neoplasms has been attracting growing attention since its initial description in 2020. While various therapeutic strategies have been explored in case studies, the optimal treatment strategy is still under investigation and allogeneic cell transplantation is considered the only curative treatment. Here, we describe 2 patients who achieved complete molecular remission of the underlying UBA1 mutant clone outside the context of allogeneic HCT. Both patients received treatment with the hypomethylating agent azacitidine, and deep molecular remission triggered treatment de-escalation and even cessation with sustained molecular remission in one of them. Prospective studies are necessary to clarify which VEXAS patients will benefit most from hypomethylating therapy and to understand the variability in the response to different treatment strategies.

Details

Original languageEnglish
Pages (from-to)993-997
Number of pages5
JournalAnnals of hematology
Volume103
Issue number3
Publication statusPublished - Mar 2024
Peer-reviewedYes

External IDs

PubMedCentral PMC10866742
Scopus 85182149422

Keywords

Keywords

  • Humans, Antimetabolites, Antineoplastic, Prospective Studies, Myelodysplastic Syndromes/drug therapy, Azacitidine, Pathologic Complete Response, Skin Diseases, Genetic