Title :

USAID Associated with Myeloid Neoplasm and VEXAS Syndrome: Two Differential Diagnoses of Suspected Adult Onset Still's Disease in Elderly Patients.

Author(s) :

Delplanque, M. [Auteur]
CHU Tenon [AP-HP]
Aouba, A. [Auteur]
CHU Caen
Service de médecine interne [CHU Caen]
Hirsch, P. [Auteur]
CHU Saint-Antoine [AP-HP]
Fenaux, P. [Auteur]
Hopital Saint-Louis [AP-HP] [AP-HP]
Graveleau, J. [Auteur]
Centre hospitalier de Saint-Nazaire
Malard, F. [Auteur]
Centre de Recherche Saint-Antoine [CRSA]
CHU Saint-Antoine [AP-HP]
Roos-Weil, D. [Auteur]
CHU Pitié-Salpêtrière [AP-HP]
Belfeki, N. [Auteur]
Centre Hospitalier de Melun [CHM]
Drevon, L. [Auteur]
Oganesyan, A. [Auteur]
Groh, M. [Auteur]
Hôpital Foch [Suresnes]
Mahévas, M. [Auteur]
CHU Henri Mondor [Créteil]
Service de médecine interne [Mondor]
Razanamahery, J. [Auteur]
Centre Hospitalier Régional Universitaire de Besançon [CHRU Besançon]
Maigne, G. [Auteur]
Décamp, M. [Auteur]
Hôpital Côte de Nacre [CHU Caen]
Miranda, S. [Auteur]
Hôpital Charles Nicolle [Rouen]
Service de Médecine Interne [CHU Rouen]
Quemeneur, T. [Auteur]
Centre hospitalier [Valenciennes, Nord]
Rossignol, J. [Auteur]
Hôpital Necker - Enfants Malades [AP-HP]
Sailler, L. [Auteur]
Service Médecine interne [CHU Toulouse]
Centre Hospitalier Universitaire de Toulouse [CHU Toulouse]
Sébert, M. [Auteur]
Terriou, Louis [Auteur]
Institut de Recherche Translationnelle sur l'Inflammation (INFINITE) - U1286
Sevoyan, A. [Auteur]
Hakobyan, Y. [Auteur]
Georgin-Lavialle, S. [Auteur]
Mekinian, A. [Auteur]
CHU Saint-Antoine [AP-HP]

Journal title :

Journal of Clinical Medicine

Abbreviated title :

J Clin Med

Volume number :

10

Publication date :

2021-12-21

ISSN :

2077-0383

English keyword(s) :

adult-onset Still's disease
myelodysplastic syndrome
SAID
USAID
VEXAS
azacytidine

HAL domain(s) :

Sciences du Vivant [q-bio]

English abstract : [en]

Background: Patients with solid cancers and hematopoietic malignancy can experience systemic symptoms compatible with adult-onset Still’s disease (AOSD). The newly described VEXAS, associated with somatic UBA1 mutations, ...
Show more >Background: Patients with solid cancers and hematopoietic malignancy can experience systemic symptoms compatible with adult-onset Still’s disease (AOSD). The newly described VEXAS, associated with somatic UBA1 mutations, exhibits an overlap of clinical and/or biological pictures with auto inflammatory signs and myelodysplastic syndrome (MDS). Objectives: To describe a cohort of patients with signs of undifferentiated systemic autoinflammatory disorder (USAID) concordant with AOSD and MDS/chronic myelomonocytic leukemia (CMML) and the prevalence of VEXAS proposed management and outcome. Methods: A French multicenter retrospective study from the MINHEMON study group also used for other published works with the support of multidisciplinary and complementary networks of physicians and a control group of 104 MDS/CMML. Results: Twenty-six patients were included with a median age at first signs of USAID of 70.5 years with male predominance (4:1). Five patients met the criteria for confirmed AOSD. The most frequent subtypes were MDS with a blast excess (31%) and MDS with multilineage dysplasia (18%). Seven patients presented with acute myeloid leukemia and twelve died during a median follow-up of 2.5 years. Six out of 18 tested patients displayed a somatic UBA1 mutation concordant with VEXAS, including one woman. High-dose corticosteroids led to a response in 13/16 cases and targeted biological therapy alone or in association in 10/12 patients (anakinra, tocilizumab, and infliximab). Azacytidine resulted in complete or partial response in systemic symptoms for 10/12 (83%) patients including 3 VEXAS. Conclusions: Systemic form of VEXAS syndrome can mimic AOSD. The suspicion of USAID or AOSD in older males with atypia should prompt an evaluation of underlying MDS and assessment of somatic UBA1 mutation.Show less >

Language :

Anglais

Peer reviewed article :

Oui

Audience :

Internationale

Popular science :

Non

Administrative institution(s) :

Université de Lille
Inserm
CHU Lille

Collections :

• Institut de Recherche Translationnelle sur l'Inflammation (INFINITE) - U1286

Submission date :

2024-01-12T05:30:35Z
2024-02-27T08:57:44Z