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. 2021 Nov 17;5(12):e661.
doi: 10.1097/HS9.0000000000000661. eCollection 2021 Dec.

Azacytidine Treatment for VEXAS Syndrome

Marc H G P Raaijmakers  1 , Maud Hermans  2 , Anna Aalbers  1   2 , Melissa Rijken  1 , Virgil A S H Dalm  2   3 , Paul van Daele  2   3 , Peter J M Valk  1
Affiliations

Azacytidine Treatment for VEXAS Syndrome

Marc H G P Raaijmakers et al. Hemasphere. .
No abstract available

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Figures

Figure 1.
Figure 1.
Clinical course and response to azacytidine in VEXAS syndrome (case 1). Skin lesions on extremities and trunk (A and B) and histopathological findings of a leg lesion (C) were consistent with a diagnosis of neutrophilic dermatosis or Sweet syndrome. A clinical picture of relapsing polychondritis corresponded with histopathological findings in an auricular biopsy (D). Bone marrow aspirate showed characteristic vacuolisation of erythroid and myeloid precursor cells (E). Skin lesions disappeared (F and G) and bone marrow cytology normalized (H) after azacytidin treatment (8 cycles). Hematoxylin and eosin staining was used in (C) and (D), and May-Grünwald Giemsa staining in (E) and (H) (magnification 10 × 100 and 10 × 63, respectively). (I) Laboratory parameters from start of first symptoms until last follow-up are shown. During and after azacytidine treatment (indicated by shaded area), laboratory parameters (platelet count, hemoglobin, MCV, and CRP levels) normalized. Horizontal dashed black lines in each graph represent lower and upper limits of the normal range for each variable. X: red blood cell transfusion. (J) Variant allele frequencies (VAFs) of UBA1 and DNMT3A mutations in bone marrow (BM) and peripheral blood (PB) from start of first presentation (years) during and after azacytidine treatment demonstrating near complete eradication of the UBA1-DNMT3A mutated clone after azacytidine treatment. ND = no data.
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