Azacitidine for patients with Vacuoles, E1 Enzyme, X‐linked, Autoinflammatory, Somatic syndrome (VEXAS) and myelodysplastic syndrome: data from the French VEXAS registry
Thibault Comont, Maël Heiblig, Étienne Rivière, Louis Terriou, Julien Rossignol, Didier Bouscary, V. Rieu, G. Le Guenno, Alexis Mathian, Achille Aouba, J. Vinit, Jérémie Dion, Olivier Kosmider, Benjamin Terrier, Sophie Georgin‐Lavialle, Pierre Fenaux, A. Mékinian, the French VEXAS study group, Groupe Francophone des Myélodysplasies (GFM) and MedecineINterne, HEmato et ONco (MINHEMON) group
Abstract
Azacitidine can be effective in myelodysplastic syndromes (MDS) associated with inflammatory/autoimmune diseases. Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, Somatic syndrome (VEXAS) is a new monogenic autoinflammatory syndrome caused by somatic ubiquitin-like modifier-activating enzyme 1 (UBA1) mutation, often associated with MDS, whose treatment is difficult and not yet codified. Based on a French nationwide registry of 116 patients with VEXAS, we report the efficacy and safety of azacitidine treatment in 11 patients with VEXAS with MDS. Clinical response of VEXAS to azacitidine was achieved in five patients (46%), during 6, 8+, 12, 21, 27+ months respectively, suggesting that azacitidine can be effective in selected patients with VEXAS and associated MDS.