Distinction between clonal and paraclonal cutaneous involvements in VEXAS syndrome.

Autoinflammatory diseases Clonal hematopoiesis Mutation Sweet syndrome Vasculitis

Journal

Experimental hematology & oncology
ISSN: 2162-3619
Titre abrégé: Exp Hematol Oncol
Pays: England
ID NLM: 101590676

Informations de publication

Date de publication:
16 Feb 2022
Historique:
received: 07 12 2021
accepted: 06 02 2022
entrez: 17 2 2022
pubmed: 18 2 2022
medline: 18 2 2022
Statut: epublish

Résumé

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.

Identifiants

pubmed: 35172893
doi: 10.1186/s40164-022-00262-5
pii: 10.1186/s40164-022-00262-5
pmc: PMC8848791
doi:

Types de publication

Letter

Langues

eng

Pagination

6

Informations de copyright

© 2022. The Author(s).

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Auteurs

Valentin Lacombe (V)

Service de Médecine Interne et Immunologie Clinique, Centre Hospitalier Universitaire, 4 rue Larrey, Angers, France. lacombe.valentin31@gmail.com.
Mitolab Team-CNRS 6214-INSERM 1083-MITOVASC Institute, University of Angers, Angers, France. lacombe.valentin31@gmail.com.

Annaelle Beucher (A)

Laboratoire d'Hématologie, Centre Hospitalier Universitaire, Angers, France.
Fédération Hospitalo-Universitaire 'Grand Ouest Against Leukemia' (FHU GOAL), Angers, France.

Geoffrey Urbanski (G)

Service de Médecine Interne et Immunologie Clinique, Centre Hospitalier Universitaire, 4 rue Larrey, Angers, France.
Mitolab Team-CNRS 6214-INSERM 1083-MITOVASC Institute, University of Angers, Angers, France.

Yannick Le Corre (Y)

Service de Dermatologie, Centre Hospitalier Universitaire, Angers, France.

Laurane Cottin (L)

Laboratoire d'Hématologie, Centre Hospitalier Universitaire, Angers, France.
CRCINA, INSERM, SFR ICAT, Universités d'Angers, Angers, France.

Anne Croué (A)

Département de Pathologie Cellulaire et Tissulaire, Centre Hospitalier Universitaire, Angers, France.

Anne Bouvier (A)

Laboratoire d'Hématologie, Centre Hospitalier Universitaire, Angers, France.
Fédération Hospitalo-Universitaire 'Grand Ouest Against Leukemia' (FHU GOAL), Angers, France.

Classifications MeSH