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

Valentin Lacombe¹, Matthieu Prevost^{2

3}, Anne Bouvier^{2

3}, Sylvain Thépot^{3

4}, Floris Chabrun^{5

6}, Olivier Kosmider⁷, Carole Lacout¹, Annaelle Beucher^{2

3}, Christian Lavigne¹, Franck Geneviève^{2

3}, Geoffrey Urbanski^{1

6}

Affiliations

¹ Department of Internal Medicine and Clinical Immunology, Angers University Hospital, Angers, France.
² Laboratory of Haematology, Angers University Hospital, Angers, France.
³ Fédération Hospitalo-Universitaire 'Grand Ouest Against Leukemia' (FHU GOAL), Angers, France.
⁴ Department of Clinical Haematology, Angers University Hospital, Angers, France.
⁵ Department of Biochemistry and Molecular Biology, Angers University Hospital, Angers, France.
⁶ MitoLab Team, UMR CNRS 6015-INSERM U1083, MitoVasc Institute, SFR ICAT, Angers, France.
⁷ CNRS UMR8104, INSERM U1016, Laboratory of Haematology, Assistance Publique-Hôpitaux de Paris, Cochin Institute, Paris, France.

Valentin Lacombe et al. Br J Haematol. 2021 Oct.

. 2021 Oct;195(2):286-289.

doi: 10.1111/bjh.17679. Epub 2021 Aug 2.

¹ Department of Internal Medicine and Clinical Immunology, Angers University Hospital, Angers, France.
² Laboratory of Haematology, Angers University Hospital, Angers, France.
³ Fédération Hospitalo-Universitaire 'Grand Ouest Against Leukemia' (FHU GOAL), Angers, France.
⁴ Department of Clinical Haematology, Angers University Hospital, Angers, France.
⁵ Department of Biochemistry and Molecular Biology, Angers University Hospital, Angers, France.
⁶ MitoLab Team, UMR CNRS 6015-INSERM U1083, MitoVasc Institute, SFR ICAT, Angers, France.
⁷ CNRS UMR8104, INSERM U1016, Laboratory of Haematology, Assistance Publique-Hôpitaux de Paris, Cochin Institute, Paris, France.

No abstract available

Keywords: VEXAS syndrome; autoinflammatory disorder; myelodysplastic syndromes; ubiquitin-activating enzymes; vacuoles.

References

1. Beck DB, Ferrada MA, Sikora KA, Ombrello AK, Collins JC, Pei W, et al. Somatic mutations in UBA1 and severe adult-onset autoinflammatory disease. N Engl J Med. 2020;383(27):2628-38.
1. Lacombe V, Kosmider O, Prévost M, Lavigne C, Urbanski G. Severe joint involvement in VEXAS syndrome: a case report. Ann Intern Med. 2021:L21-0023. https://doi.org/10.7326/L21-0023.
1. Lazarchick J. Update on anemia and neutropenia in copper deficiency. Curr Opin Hematol. 2012;19:58-60.
1. Gajendra S, Gupta R, Sharma A, Gupta R, Gogia A. Acute myeloid leukaemia with Pseudo-Chediak-Higashi granules and intracytoplasmic vacuoles. Eur J Haematol. 2011. https://doi.org/10.1111/j.1600-0609.2011.01668.x.
1. Sayın S, Ünal Ş, Çetin M, Gümrük F. Vacuolization in myeloid and erythroid precursors in a child with menkes disease. Turk J Hematol. 2019;36:203-4.