Distinction between clonal and paraclonal cutaneous involvements in VEXAS syndrome

Experimental Hematology & Oncology

Anne Croué¹  Laurane Cottin²  Anne Bouvier³  Annaelle Beucher³  Yannick Le Corre⁴  Geoffrey Urbanski⁵  Valentin Lacombe⁵ 

[1]Département de Pathologie Cellulaire et Tissulaire, Centre Hospitalier Universitaire, Angers, France

[2]Laboratoire d’Hématologie, Centre Hospitalier Universitaire, Angers, France

[3]CRCINA, INSERM, SFR ICAT, Universités d’Angers, Angers, France

[4]Laboratoire d’Hématologie, Centre Hospitalier Universitaire, Angers, France

[5]Fédération Hospitalo-Universitaire ‘Grand Ouest Against Leukemia’ (FHU GOAL), Angers, France

[6]Service de Dermatologie, Centre Hospitalier Universitaire, Angers, France

[7]Service de Médecine Interne et Immunologie Clinique, Centre Hospitalier Universitaire, 4 rue Larrey, Angers, France

[8]Mitolab Team—CNRS 6214—INSERM 1083—MITOVASC Institute, University of Angers, Angers, France

关键词: Autoinflammatory diseases;    Sweet syndrome;    Vasculitis;    Clonal hematopoiesis;    Mutation;   

DOI  :  10.1186/s40164-022-00262-5

来源: Springer

【 摘 要 】

VEXAS (vacuoles, E1 enzyme, X-linked, auto-inflammatory, somatic) syndrome is an inflammatory disorder with hematological and systemic features. A recent study demonstrated that the dermal infiltrate in neutrophilic dermatosis from VEXAS patients is derived from the pathological UBA1-mutated myeloid clone. Neutrophilic dermatosis is, however, only one of the various skin involvements observed in VEXAS syndrome. We analyzed 10 formalin-fixed paraffin-embedded skin biopsies from genetically confirmed VEXAS syndrome. UBA1 mutation was found in the biopsies related to neutrophilic dermatitis but in none of the other histological patterns (leukocytoclastic vasculitis and septal panniculitis). This could lead to a distinction between clonal and paraclonal cutaneous involvements in VEXAS syndrome, which could in turn improve therapeutic outcomes.

【 授权许可】

CC BY