PMID- 34884286 OWN - NLM STAT- PubMed-not-MEDLINE LR - 20211214 IS - 2077-0383 (Print) IS - 2077-0383 (Electronic) IS - 2077-0383 (Linking) VI - 10 IP - 23 DP - 2021 Nov 27 TI - USAID Associated with Myeloid Neoplasm and VEXAS Syndrome: Two Differential Diagnoses of Suspected Adult Onset Still's Disease in Elderly Patients. LID - 10.3390/jcm10235586 [doi] LID - 5586 AB - 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. FAU - Delplanque, Marion AU - Delplanque M AD - Service de Medecine Interne, Centre de Reference des Maladies Autoinflammatoires et des Amyloses (CEREMAIA), AP-HP, Hopital Tenon, Sorbonne Universite, 75020 Paris, France. FAU - Aouba, Achille AU - Aouba A AD - Service de Medecine Interne, CHU de Caen, Hopital de la Cote de Nacre, 14033 Caen, France. FAU - Hirsch, Pierre AU - Hirsch P AD - Service d'Hematologie Biologique, INSERM, Centre de Recherche Saint-Antoine, AP-HP, Hopital Saint-Antoine, Sorbonne Universite, 75012 Paris, France. FAU - Fenaux, Pierre AU - Fenaux P AD - Service d'Hematologie Seniors, AP-HP, Hopital Saint-Louis, 75010 Paris, France. FAU - Graveleau, Julie AU - Graveleau J AD - Service de Medecine Interne, Centre Hospitalier Georges Charpak, 44600 Saint Nazaire, France. FAU - Malard, Florent AU - Malard F AD - Service d'Hematologie Biologique, INSERM, Centre de Recherche Saint-Antoine, AP-HP, Hopital Saint-Antoine, Sorbonne Universite, 75012 Paris, France. FAU - Roos-Weil, Damien AU - Roos-Weil D AD - Service d'Hematologie, AP-HP, Hopital Pitie Salpetriere, 75013 Paris, France. FAU - Belfeki, Nabil AU - Belfeki N AD - Service de Medecine Interne, Centre Hospitalier Marc Jacquet, 77000 Melun, France. FAU - Drevon, Louis AU - Drevon L AD - Service d'Hematologie Biologique, INSERM, Centre de Recherche Saint-Antoine, AP-HP, Hopital Saint-Antoine, Sorbonne Universite, 75012 Paris, France. FAU - Oganesyan, Artem AU - Oganesyan A AUID- ORCID: 0000-0003-1039-4835 AD - Department of Hematology and Transfusion Medicine, National Institute of Health, Yerevan 0051, Armenia. FAU - Groh, Matthieu AU - Groh M AD - Service de Medecine Interne, Hopital Foch, 92150 Suresnes, France. FAU - Mahevas, Matthieu AU - Mahevas M AD - Service de Medecine Interne, CHU Hopital Henri Mondor, 94000 Creteil, France. FAU - Razanamahery, Jerome AU - Razanamahery J AD - Service de Medecine Interne, CHRU Jean Minjoz, 25000 Besancon, France. FAU - Maigne, Gwenola AU - Maigne G AD - Service de Medecine Interne, CHU de Caen, Hopital de la Cote de Nacre, 14033 Caen, France. FAU - Decamp, Matthieu AU - Decamp M AD - Laboratoire de Genetique CHU de Caen, Hopital de la Cote de Nacre, 14000 Care, France. FAU - Miranda, Sebastien AU - Miranda S AD - Service de Medecine Interne, CHU Hopital Charles Nicolle, 76000 Rouen, France. FAU - Quemeneur, Thomas AU - Quemeneur T AD - Service de Medecine Interne, CH de Valenciennes, 59300 Valenciennes, France. FAU - Rossignol, Julien AU - Rossignol J AD - Service d'Hematologie Adultes, AP-HP, Hopital Necker-Enfants Malades, 75015 Paris, France. FAU - Sailler, Laurent AU - Sailler L AD - Service de Medecine Interne, CHU Hopital Purpan, 31059 Toulouse, France. FAU - Sebert, Marie AU - Sebert M AD - Service d'Hematologie Seniors, AP-HP, Hopital Saint-Louis, 75010 Paris, France. FAU - Terriou, Louis AU - Terriou L AD - Service de Medecine Interne, CHR Lille, Sorbonne Universite, 75005 Paris, France. FAU - Sevoyan, Anna AU - Sevoyan A AD - Department of Hematology and Transfusion Medicine, National Institute of Health, Yerevan 0051, Armenia. FAU - Hakobyan, Yervand AU - Hakobyan Y AD - Department of Hematology and Transfusion Medicine, National Institute of Health, Yerevan 0051, Armenia. FAU - Georgin-Lavialle, Sophie AU - Georgin-Lavialle S AD - Service de Medecine Interne, Centre de Reference des Maladies Autoinflammatoires et des Amyloses (CEREMAIA), AP-HP, Hopital Tenon, Sorbonne Universite, 75020 Paris, France. FAU - Mekinian, Arsene AU - Mekinian A AD - Service de Medecine Interne, AP-HP, Hopital Saint Antoine, Sorbonne Universite, 75012 Paris, France. LA - eng PT - Journal Article DEP - 20211127 PL - Switzerland TA - J Clin Med JT - Journal of clinical medicine JID - 101606588 PMC - PMC8658409 OTO - NOTNLM OT - SAID OT - USAID OT - VEXAS OT - adult-onset Still's disease OT - azacytidine OT - myelodysplastic syndrome COIS- The authors declare no conflict of interest. EDAT- 2021/12/11 06:00 MHDA- 2021/12/11 06:01 PMCR- 2021/11/27 CRDT- 2021/12/10 01:02 PHST- 2021/09/30 00:00 [received] PHST- 2021/11/17 00:00 [revised] PHST- 2021/11/23 00:00 [accepted] PHST- 2021/12/10 01:02 [entrez] PHST- 2021/12/11 06:00 [pubmed] PHST- 2021/12/11 06:01 [medline] PHST- 2021/11/27 00:00 [pmc-release] AID - jcm10235586 [pii] AID - jcm-10-05586 [pii] AID - 10.3390/jcm10235586 [doi] PST - epublish SO - J Clin Med. 2021 Nov 27;10(23):5586. doi: 10.3390/jcm10235586.