Vacuoles in neutrophil precursors in VEXAS syndrome: diagnostic performances and threshold

Lacombe, Victor G.; Prevost, M; Bouvier, Anne; Thépot, Sylvain; Chabrun, Floris; Kosmider, Olivier; Lacout, Carole; Beucher, A.B.; Lavigne, Christian; Geneviève, Franck; Urbanski, G.

doi:10.1111/bjh.17679

Cited by 59 publications

(52 citation statements)

References 11 publications

(36 reference statements)

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“…The median age at onset for VEXAS syndrome is 69.5 years, suggesting predominantly late-onset disease. However, VEXAS can present as early as 45 years of age [1,4,5,9]. Lastly, the association of haematological malignancies with VEXAS syndrome such as myelodysplastic syndrome and multiple myeloma compounds the risk of venous thromboembolism.…”

Section: Discussionmentioning

confidence: 99%

“…VEXAS (Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome [1] is described as a late-onset autoinflammatory syndrome exhibiting a spectrum of systemic inflammatory manifestations as well as significant haematologic abnormalities such as macrocytic anaemia, marrow dysplasia, vacuolisation in myeloid cells [2] and thrombosis. Several published case series [1,[3][4][5][6][7][8][9][10] have observed a high prevalence of venous thromboembolism (VTE) in patients with VEXAS syndrome of between 10% and 56%, with a significant mortality rate (27%-50%). We report a case of VEXAS syndrome complicated by unprovoked venous thromboembolism, followed by a rapid review of available literature.…”

Section: Introductionmentioning

confidence: 99%

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Thrombosis in VEXAS syndrome

Koay

Lee

et al. 2021

J Thromb Thrombolysis

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Thrombosis in VEXAS syndrome

Koay

Lee

et al. 2021

J Thromb Thrombolysis

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“…Our case illustrates that vacuolisation, which is a rather unspecific finding observed in MDS, acute myeloid leukemia as well as in zinc deficiency and others, must be searched explicitly ( 23 , 24 ). The retrospective analysis of the previous BMA revealed the presence of significant vacuolisation two years prior to the VEXAS diagnosis ( Figures 4A, B ), but initially it was not reported until the very last BMA since previously deemed unspecific and irrelevant.…”

Section: Discussionmentioning

confidence: 84%

“…The retrospective analysis of the previous BMA revealed the presence of significant vacuolisation two years prior to the VEXAS diagnosis ( Figures 4A, B ), but initially it was not reported until the very last BMA since previously deemed unspecific and irrelevant. Vacuolisation of myeloid and erythroid precursor cells could indicate VEXAS if a certain proportion (>10%) of neutrophil precursors in the BMA are affected and should prompt genetic testing for UBA1 in the appropriate clinical setting of uncharacterized and systemic autoinflammatory manifestations ( 23 ).…”

Section: Discussionmentioning

confidence: 99%

Case Report: Genetic Double Strike: VEXAS and TET2-Positive Myelodysplastic Syndrome in a Patient With Long-Standing Refractory Autoinflammatory Disease

et al. 2022

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Somatic genetic mutations involving the innate and inflammasome signaling are key drivers of the pathogenesis of myelodysplastic syndromes (MDS). Herein, we present a patient, who suffered from a long-standing refractory adult-onset autoinflammatory syndrome (AIS), previously interpreted as various distinct rheumatic disorders. Developing pancytopenia and particularly macrocytic anemia prompted the screening for a hematological malignancy, which led to the diagnosis of a TET-2-positive MDS. The impressive and continuously changing range of organ involvement, with remarkable refractoriness to anti-inflammatory treatment, exceeded the common autoinflammatory phenotype of MDS patients. This prompted us to suspect a recently discovered disease, characterized by somatic mutations of the UBA1 gene: the VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) syndrome, which was ultimately confirmed by genetic testing. Reevaluation of previous bone marrow biopsies showed the presence of characteristic vacuoles in myeloid- and erythroid progenitor cells. Our case illustrates that the triad of an unresponsive multisystemic autoinflammatory disease, hematological abnormalities and vacuoles in myeloid- and erythroid progenitors in the bone marrow biopsy should prompt screening for the VEXAS syndrome.

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“…Beck et al have described a distinct yet heterogeneous phenotype of multisystem inflammation in patients with haematological abnormalities, with key features exemplified in our cases of refractory autoinflammatory disease, macrocytic anaemia 4 and vacuolation in >10% of myeloid and erythroid precursors on BMB. 11 Systemic inflammatory and autoimmune disorders have a higher incidence in patients with MDS, and have been associated with higher IPSS risk categories and worse survival. 12,13 The recent discovery of…”

Section: Discussionmentioning

confidence: 99%