<scp>VEXAS</scp> syndrome: A review of bone marrow aspirate and biopsies reporting myeloid and erythroid precursor vacuolation

Cherniawsky, Hannah; Friedmann, Jordan; Nicolson, Hamish; Dehghan, Natasha; Stubbins, Ryan J.; Foltz, Lynda; Leitch, Heather A.; Sreenivasan, Gayatri M.; Ambler, Kimberley; Nevill, Thomas J.; McGinnis, Eric; Wilson, Lorena; Beck, David B.; Chen, Luke Y C; Marcon, Krista M

doi:10.1111/ejh.13944

Cited by 13 publications

(9 citation statements)

References 19 publications

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“…11 In the retrospective analysis of cases in which vacuolization was reported in myeloid precursors in the bone marrow evaluation, 38.6% of MDS and 2.9% of Vexas syndrome detected. 12 Figure 1 shows the vacuolization in bone marrow sample in Vexas syndrome.…”

Section: Discussionmentioning

confidence: 99%

Different Clinical Presentations of Monogenic Vexas Syndrome

KARADENİZ,

MALKAN,

BÜYÜKAŞIK

2024

Turkiye Klinikleri J Case Rep

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ABS TRACT Vexas syndrome is caused by an X-linked somatic mutation in which haematological manifestations and autoimmunity are intertwined. The clinical course can be very diverse and marrow manifestations seen especially in myelodysplastic syndrome are observed. There is no specific agent in the treatment and the treatments used in myelodysplastic syndrome come to the fore. In this article, we wanted to describe the different clinical courses of our cases with Vexas syndrome. Although the syndrome resembles myelodysplastic syndrome in terms of haematological findings, it is in a quite different spectrum in terms of clinical course. It may present with simple anaemia or complicated thromboembolic events and mortality.

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Section: Discussionmentioning

confidence: 99%

Different Clinical Presentations of Monogenic Vexas Syndrome

KARADENİZ,

MALKAN,

BÜYÜKAŞIK

2024

Turkiye Klinikleri J Case Rep

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“…Limited but promising results have been achieved with the JAK1/2 inhibitor ruxolitinib or the hypomethylating agent 5-azacytidine [8][9][10]18,24]. Due to this fact and the absence of evidence-based recommendations, we treated our patients with these two substances.…”

Section: Discussionmentioning

confidence: 99%

“…Common clinical features observed in VEXAS syndrome patients include skin lesions (83%), non-infectious fever (64%), weight loss (62%), lung involvement (50%), ocular symptoms (39%), relapsing chondritis (36%), venous thrombosis (35%), lymphadenopathy (34%), and arthralgia (27%) [3]. Additionally, patients with VEXAS syndrome experience progressive hematologic abnormalities such as macrocytic anemia, thrombocytopenia, and myeloid dyspoiesis [8][9][10]. In a substantial number of cases, the disease may progress to an overt hematologic malignant condition [11][12][13].…”

Section: Introductionmentioning

confidence: 99%

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VEXAS and Myelodysplastic Syndrome: An Interdisciplinary Challenge

Kreutzinger,

Pankow,

Boyadzhieva

et al. 2024

JCM

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VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a recently recognized systemic autoinflammatory disease caused by somatic mutations in hematopoietic progenitor cells. This case series of four patients with VEXAS syndrome and comorbid myelodysplastic syndrome (MDS) aims to describe clinical, imaging, and hematologic disease presentations as well as response to therapy. Four patients with VEXAS syndrome and MDS are described. A detailed analysis of imaging features, hemato-oncological presentation including bone marrow microscopy and clinical–rheumatological disease features and treatment outcomes is given. All patients were male; ages ranged between 64 and 81 years; all were diagnosed with MDS. CT imaging was available for three patients, all of whom exhibited pulmonary infiltrates of varying severity, resembling COVID-19 or hypersensitivity pneumonitis without traces of scarring. Bone marrow microscopy showed maturation-disordered erythropoiesis and pathognomonic vacuolation. Somatic mutation in the UBA1 codon 41 were found in all patients by next-generation sequencing. Therapy regimes included glucocorticoids, JAK1/2-inhibitors, nucleoside analogues, as well as IL-1 and IL-6 receptor antagonists. No fatalities occurred (observation period from symptom onset: 18–68 months). Given the potential underreporting of VEXAS syndrome, we highly recommend contemporary screening for UBA1 mutations in patients presenting with ambiguous signs of systemic autoinflammatory symptoms which persist over 18 months despite treatment. The emergence of cytopenia, especially macrocytic hyperchromic anemia, should prompt early testing for UBA1 mutations. Notably conspicuous, pulmonary alterations in CT imaging of patients with therapy-resistant systemic autoinflammatory symptoms should be discussed in interdisciplinary medical teams (Rheumatology, Hematology, Radiology and further specialist departments) to facilitate timely diagnosis during the clinical course of the disease.

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“…In our cohort, we have noted distinctly vacuolated myeloid and erythroid precursors exceeding 5% of the lineage elements in 89% and 83% of cases, respectively 41 . It should be noted that cytoplasmic vacuolization in early erythroid and myeloid precursors is not specific for VEXAS and can be seen in copper deficiency, acute myeloid leukemia, lymphoproliferative disorders, multiple myeloma, myeloproliferative neoplasm (MPN), MDS, MDS/MPN overlap, liver disease/alcoholism and as an artifact of sample preparation or processing 43 . As such, it is imperative to exclude these other possibilities in an individual case.…”

Section: Hematologic Features Of Vexas Syndromementioning

confidence: 99%

VEXAS syndrome: Clinical, hematologic features and a practical approach to diagnosis and management

Koster,

Lasho,

Olteanu

et al. 2023

American J Hematol

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VEXAS (Vacuoles, E1 enzyme, X‐linked, Autoinflammatory, Somatic) syndrome is a newly identified disease caused by somatic alterations in UBA1 which produce a recalcitrant inflammatory state along with hematologic disturbances. Patients with VEXAS can have a wide spectrum of clinical symptoms and providers should be familiar with the heterogeneity of associated clinical features. While hematologic parameters may be generally non‐specific, peripheral blood features of macrocytosis, monocytopenia, and/or thrombocytopenia coupled with bone marrow vacuolization of erythroid or myeloid precursors should raise suspicion for this condition. Due to an increased mortality, prompt recognition and accurate diagnosis is paramount. Access to testing for confirmation of UBA1 variants is not yet universally available but clinicians should understand the current available options for genetic confirmation of this disease. Treatment options are limited due to lack of prospective clinical trials but cytokine directed therapies such as interleukin‐6 inhibitors and JAK–STAT inhibitors as well as hypomethylating agents such as azacitidine have shown evidence of partial effect. Though cases are limited, allogeneic stem cell transplantation holds promise for durable response and potential cure. The intent of this review is to outline the pathophysiology of VEXAS syndrome and to provide a practical approach to diagnosis and treatment.

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VEXAS syndrome: A review of bone marrow aspirate and biopsies reporting myeloid and erythroid precursor vacuolation

Cited by 13 publications

References 19 publications

Different Clinical Presentations of Monogenic Vexas Syndrome

Different Clinical Presentations of Monogenic Vexas Syndrome

VEXAS and Myelodysplastic Syndrome: An Interdisciplinary Challenge

VEXAS syndrome: Clinical, hematologic features and a practical approach to diagnosis and management

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