{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T01:09:51Z","timestamp":1790125791317,"version":"4.0.1"},"reference-count":19,"publisher":"Oxford University Press (OUP)","issue":"6","license":[{"start":{"date-parts":[[2024,2,27]],"date-time":"2024-02-27T00:00:00Z","timestamp":1708992000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,6,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>VEXAS syndrome is an adult-onset autoinflammatory disease caused by a somatic pathogenic mutation in the UBA1 (ubiquitin-like modifier activating enzyme 1) gene. Patients present with rheumatologic manifestations and cytopenias and may have an increased predisposition to myelodysplastic syndrome (MDS) and plasma cell neoplasms. Prior studies have reported on the peripheral blood and bone marrow findings in patients with VEXAS syndrome. Due to the protean clinical presentation and lack of specificity of morphologic features (eg, vacuoles in early erythroid and granulocytic precursors), an optimal screening methodology to identify these patients in a timely fashion is desirable.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>To further evaluate and describe the salient diagnostic morphologic features in VEXAS syndrome, we carried out a comprehensive study of the largest single-institution cohort to date. Diagnostic and follow-up bone marrow biopsy specimens from 52 male patients with molecularly identified VEXAS syndrome underwent central review.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Cytopenias were common in all cases, primarily macrocytic anemia, monocytopenia, and thrombocytopenia. Bone marrow aspirate and biopsy were often hypercellular, with an increased myeloid\/erythroid ratio, granulocytic hyperplasia with left shift, erythroid left shift, and megakaryocyte hyperplasia, which exhibited a range of striking morphologic findings. Distinctly vacuolated myeloid and erythroid precursors were seen in more than 95% of cases.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Our data reveal potential novel diagnostic features, such as a high incidence of monocytopenia and distinct patterns of atypical megakaryopoiesis, that appear different from dysmegakaryopoiesis typically associated with MDS. In our experience, those findings are suggestive of VEXAS, in the appropriate clinical context.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1093\/ajcp\/aqad186","type":"journal-article","created":{"date-parts":[[2023,12,22]],"date-time":"2023-12-22T02:51:06Z","timestamp":1703213466000},"page":"609-624","source":"Crossref","is-referenced-by-count":30,"title":["Comprehensive morphologic characterization of bone marrow biopsy findings in a large cohort of patients with VEXAS syndrome: A single-institution longitudinal study of 111 bone marrow samples from 52 patients"],"prefix":"10.1093","volume":"161","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5783-4485","authenticated-orcid":false,"given":"Horatiu","family":"Olteanu","sequence":"first","affiliation":[{"name":"Division of Hematopathology, Department of Pathology and Laboratory Medicine, Mayo Clinic , Rochester, MN , US"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mrinal","family":"Patnaik","sequence":"additional","affiliation":[{"name":"Division of Hematology, Department of Medicine, Mayo Clinic , Rochester, MN , US"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew J","family":"Koster","sequence":"additional","affiliation":[{"name":"Division of Rheumatology, Department of Medicine, Mayo Clinic , Rochester, MN , US"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer L","family":"Herrick","sequence":"additional","affiliation":[{"name":"Division of Hematopathology, Department of Pathology and Laboratory Medicine, Mayo Clinic , Rochester, MN , US"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7627-9560","authenticated-orcid":false,"given":"Dong","family":"Chen","sequence":"additional","affiliation":[{"name":"Division of Hematopathology, Department of Pathology and Laboratory Medicine, Mayo Clinic , Rochester, MN , US"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6116-8163","authenticated-orcid":false,"given":"Rong","family":"He","sequence":"additional","affiliation":[{"name":"Division of Hematopathology, Department of Pathology and Laboratory Medicine, Mayo Clinic , Rochester, MN , US"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Viswanatha","sequence":"additional","affiliation":[{"name":"Division of Hematopathology, Department of Pathology and Laboratory Medicine, Mayo Clinic , Rochester, MN , US"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenneth J","family":"Warrington","sequence":"additional","affiliation":[{"name":"Division of Rheumatology, Department of Medicine, Mayo Clinic , Rochester, MN , US"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ronald S","family":"Go","sequence":"additional","affiliation":[{"name":"Division of Hematology, Department of Medicine, Mayo Clinic , Rochester, MN , US"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abhishek A","family":"Mangaonkar","sequence":"additional","affiliation":[{"name":"Division of Hematology, Department of Medicine, Mayo Clinic , Rochester, MN , US"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Taxiarchis","family":"Kourelis","sequence":"additional","affiliation":[{"name":"Division of Hematology, Department of Medicine, Mayo Clinic , Rochester, MN , US"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1928-9732","authenticated-orcid":false,"given":"Alexander","family":"Hines","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Mayo Clinic , Rochester, MN , US"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2427-6442","authenticated-orcid":false,"given":"Sarah E","family":"Gibson","sequence":"additional","affiliation":[{"name":"Division of Hematopathology, Department of Pathology and Laboratory Medicine, Mayo Clinic , Phoenix, AZ , US"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jess F","family":"Peterson","sequence":"additional","affiliation":[{"name":"Division of Hematopathology, Department of Pathology and Laboratory Medicine, Mayo Clinic , Rochester, MN , US"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kaaren K","family":"Reichard","sequence":"additional","affiliation":[{"name":"Division of Hematopathology, Department of Pathology and Laboratory Medicine, Mayo Clinic , Rochester, MN , US"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2024,2,27]]},"reference":[{"key":"2024060305520731900_CIT0001","first-page":"2628","article-title":"Somatic mutations in UBA1 and severe adult-onset autoinflammatory disease","volume-title":"N Engl J Med.","author":"Beck","year":"2020"},{"key":"2024060305520731900_CIT0002","first-page":"201","article-title":"VEXAS syndrome: an inflammatory and hematologic disease","volume-title":"Semin Hematol.","author":"Patel","year":"2021"},{"key":"2024060305520731900_CIT0003","first-page":"2653","article-title":"Clinical heterogeneity of the VEXAS syndrome: a case series","volume-title":"Mayo Clin Proc.","author":"Koster","year":"2021"},{"key":"2024060305520731900_CIT0004","first-page":"3685","article-title":"Vacuolization of hematopoietic precursors: an enigma with multiple etiologies","volume-title":"Blood.","author":"Gurnari","year":"2021"},{"key":"2024060305520731900_CIT0005","first-page":"564","article-title":"Further characterization of clinical and laboratory features in VEXAS syndrome: large-scale analysis of a multicentre case series of 116 French patients","volume-title":"Br J Dermatol.","author":"Georgin-Lavialle","year":"2022"},{"key":"2024060305520731900_CIT0006","first-page":"3203","article-title":"Benign and malignant hematologic manifestations in patients with VEXAS syndrome due to somatic mutations in UBA1","volume-title":"Blood Adv.","author":"Obiorah","year":"2021"},{"key":"2024060305520731900_CIT0007","first-page":"204","article-title":"Characteristic bone marrow findings in patients with UBA1 somatic mutations and VEXAS syndrome","volume-title":"Semin Hematol.","author":"Patel","year":"2021"},{"key":"2024060305520731900_CIT0008","first-page":"286","article-title":"Vacuoles in neutrophil precursors in VEXAS syndrome: diagnostic performances and threshold","volume-title":"Br J Haematol.","author":"Lacombe","year":"2021"},{"issue":"6","key":"2024060305520731900_CIT0009","doi-asserted-by":"crossref","first-page":"633","DOI":"10.1111\/ejh.13944","article-title":"VEXAS syndrome: a review of bone marrow aspirate and biopsies reporting myeloid and erythroid precursor","volume":"110","author":"Cherniawsky","year":"2023","journal-title":"Eur J Haematol."},{"key":"2024060305520731900_CIT0010","first-page":"3676","article-title":"Novel somatic mutations in UBA1 as a cause of VEXAS syndrome","volume-title":"Blood.","author":"Poulter","year":"2021"},{"key":"2024060305520731900_CIT0011","first-page":"3682","article-title":"Therapeutic options in VEXAS syndrome: insights from a retrospective series","volume-title":"Blood.","author":"Bourbon","year":"2021"},{"key":"2024060305520731900_CIT0012","doi-asserted-by":"crossref","DOI":"10.1159\/isbn.978-3-318-06867-2","volume-title":"ISCN 2020: An International System for Human Genomic Nomenclature","author":"McGowan-Jordan","year":"2020"},{"key":"2024060305520731900_CIT0013","doi-asserted-by":"crossref","first-page":"938","DOI":"10.1111\/ijd.16635","article-title":"Cutaneous involvement in VEXAS syndrome: clinical and histopathologic findings","volume":"62","author":"Hines","year":"2023","journal-title":"Int J Dermatol."},{"key":"2024060305520731900_CIT0014","first-page":"E28","article-title":"Reduced intensity conditioning allogeneic hematopoietic stem cell transplantation in VEXAS syndrome: data from a prospective series of patients","volume-title":"Am J Hematol.","author":"Mangaonkar","year":"2023"},{"issue":"5","key":"2024060305520731900_CIT0015","first-page":"e313","article-title":"Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome: a presentation of two cases with dermatologic findings","volume":"62","author":"Mohammed","year":"2022","journal-title":"Int J Dermatol."},{"key":"2024060305520731900_CIT0016","first-page":"64","article-title":"Frequent pathway mutations of splicing machinery in myelodysplasia","volume-title":"Nature.","author":"Yoshida","year":"2011"},{"key":"2024060305520731900_CIT0017","first-page":"1886","article-title":"Somatic mutations in UBA1 define a distinct subset of relapsing polychondritis patients with VEXAS","volume-title":"Arthritis Rheumatol","author":"Ferrada","year":"2021"},{"key":"2024060305520731900_CIT0018","first-page":"e828","article-title":"Quantitative assessment of vacuolization of myeloid precursors in VEXAS syndrome","volume-title":"Hemasphere","author":"Rabut","year":"2023"},{"key":"2024060305520731900_CIT0019","first-page":"244","article-title":"Spectrum of clonal hematopoiesis in VEXAS syndrome","volume-title":"Blood.","author":"Gutierrez-Rodrigues","year":"2023"}],"container-title":["American Journal of Clinical 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