{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,10]],"date-time":"2026-09-10T02:39:34Z","timestamp":1789007974878,"version":"build-2803163510"},"reference-count":38,"publisher":"MDPI AG","issue":"23","license":[{"start":{"date-parts":[[2021,11,27]],"date-time":"2021-11-27T00:00:00Z","timestamp":1637971200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>Background: Patients with solid cancers and hematopoietic malignancy can experience systemic symptoms compatible with adult-onset Still\u2019s 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.<\/jats:p>","DOI":"10.3390\/jcm10235586","type":"journal-article","created":{"date-parts":[[2021,11,30]],"date-time":"2021-11-30T22:01:11Z","timestamp":1638309671000},"page":"5586","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":32,"title":["USAID Associated with Myeloid Neoplasm and VEXAS Syndrome: Two Differential Diagnoses of Suspected Adult Onset Still\u2019s Disease in Elderly Patients"],"prefix":"10.3390","volume":"10","author":[{"given":"Marion","family":"Delplanque","sequence":"first","affiliation":[{"name":"Service de M\u00e9decine Interne, Centre de R\u00e9f\u00e9rence des Maladies Autoinflammatoires et des Amyloses (CEREMAIA), AP-HP, H\u00f4pital Tenon, Sorbonne Universit\u00e9, 75020 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Achille","family":"Aouba","sequence":"additional","affiliation":[{"name":"Service de M\u00e9decine Interne, CHU de Caen, H\u00f4pital de la C\u00f4te de Nacre, 14033 Caen, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre","family":"Hirsch","sequence":"additional","affiliation":[{"name":"Service d\u2019H\u00e9matologie Biologique, INSERM, Centre de Recherche Saint-Antoine, AP-HP, H\u00f4pital Saint-Antoine, Sorbonne Universit\u00e9, 75012 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre","family":"Fenaux","sequence":"additional","affiliation":[{"name":"Service d\u2019H\u00e9matologie Seniors, AP-HP, H\u00f4pital Saint-Louis, 75010 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie","family":"Graveleau","sequence":"additional","affiliation":[{"name":"Service de M\u00e9decine Interne, Centre Hospitalier Georges Charpak, 44600 Saint Nazaire, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Florent","family":"Malard","sequence":"additional","affiliation":[{"name":"Service d\u2019H\u00e9matologie Biologique, INSERM, Centre de Recherche Saint-Antoine, AP-HP, H\u00f4pital Saint-Antoine, Sorbonne Universit\u00e9, 75012 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Damien","family":"Roos-Weil","sequence":"additional","affiliation":[{"name":"Service d\u2019H\u00e9matologie, AP-HP, H\u00f4pital Piti\u00e9 Salp\u00eatri\u00e8re, 75013 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nabil","family":"Belfeki","sequence":"additional","affiliation":[{"name":"Service de M\u00e9decine Interne, Centre Hospitalier Marc Jacquet, 77000 Melun, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Louis","family":"Drevon","sequence":"additional","affiliation":[{"name":"Service d\u2019H\u00e9matologie Biologique, INSERM, Centre de Recherche Saint-Antoine, AP-HP, H\u00f4pital Saint-Antoine, Sorbonne Universit\u00e9, 75012 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1039-4835","authenticated-orcid":false,"given":"Artem","family":"Oganesyan","sequence":"additional","affiliation":[{"name":"Department of Hematology and Transfusion Medicine, National Institute of Health, Yerevan 0051, Armenia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthieu","family":"Groh","sequence":"additional","affiliation":[{"name":"Service de M\u00e9decine Interne, H\u00f4pital Foch, 92150 Suresnes, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthieu","family":"Mah\u00e9vas","sequence":"additional","affiliation":[{"name":"Service de M\u00e9decine Interne, CHU H\u00f4pital Henri Mondor, 94000 Cr\u00e9teil, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jerome","family":"Razanamahery","sequence":"additional","affiliation":[{"name":"Service de M\u00e9decine Interne, CHRU Jean Minjoz, 25000 Besan\u00e7on, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gwenola","family":"Maigne","sequence":"additional","affiliation":[{"name":"Service de M\u00e9decine Interne, CHU de Caen, H\u00f4pital de la C\u00f4te de Nacre, 14033 Caen, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthieu","family":"D\u00e9camp","sequence":"additional","affiliation":[{"name":"Laboratoire de G\u00e9n\u00e9tique CHU de Caen, H\u00f4pital de la C\u00f4te de Nacre, 14000 Care, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S\u00e9bastien","family":"Miranda","sequence":"additional","affiliation":[{"name":"Service de M\u00e9decine Interne, CHU H\u00f4pital Charles Nicolle, 76000 Rouen, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Quemeneur","sequence":"additional","affiliation":[{"name":"Service de M\u00e9decine Interne, CH de Valenciennes, 59300 Valenciennes, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julien","family":"Rossignol","sequence":"additional","affiliation":[{"name":"Service d\u2019H\u00e9matologie Adultes, AP-HP, H\u00f4pital Necker-Enfants Malades, 75015 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurent","family":"Sailler","sequence":"additional","affiliation":[{"name":"Service de M\u00e9decine Interne, CHU H\u00f4pital Purpan, 31059 Toulouse, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie","family":"S\u00e9bert","sequence":"additional","affiliation":[{"name":"Service d\u2019H\u00e9matologie Seniors, AP-HP, H\u00f4pital Saint-Louis, 75010 Paris, 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AP-HP, H\u00f4pital Tenon, Sorbonne Universit\u00e9, 75020 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ars\u00e8ne","family":"Mekinian","sequence":"additional","affiliation":[{"name":"Service de M\u00e9decine Interne, AP-HP, H\u00f4pital Saint Antoine, Sorbonne Universit\u00e9, 75012 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,11,27]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"344","DOI":"10.1093\/rheumatology\/kez270","article-title":"Next generation sequencing panel in undifferentiated autoinflammatory diseases identifies patients with colchicine-responder recurrent fevers","volume":"59","author":"Papa","year":"2020","journal-title":"Rheumatology"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"1550","DOI":"10.1136\/annrheumdis-2015-207701","article-title":"Next-generation sequencing and its initial applications for molecular 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