Autoinflammatory & rare systemic diseases
Targeted testing of bone marrow specimens with cytoplasmic vacuolization to identify previously undiagnosed cases of VEXAS syndrome
Authors' conclusion
In this study, the utilization of a clinically applicable targeted-screening approach to test bone marrow specimens (with vacuolization) for the presence of previously undiagnosed VEXAS syndrome resulted in a positive detection rate of 87.5%.
Study context
- Population
- Male patients with cytoplasmic vacuolization documented in bone marrow reports, 1 May 2014 to 18 February 2022; acute leukaemia, lymphoma, metastatic solid tumour, amyloidosis or POEMS syndrome excluded292 patients
- Outcome
- Pathogenic somatic UBA1 variant consistent with VEXAS syndrome (positive detection rate) among moderate- or high-suspicion patients with available DNA
Methodological detailstargeted screening, 5-point suspicion scale
- Targeted screening
- 5-point suspicion scale
Performance
As reported in the abstract
Pathogenic somatic UBA1 variant consistent with VEXAS syndrome among patients tested
Patients with available DNA tested
8
Pathogenic somatic UBA1 variant (positive detection rate)
7
87.5%
Further findings
Screening flow
- Reports documenting vacuolization
- 315
- Unique patients
- 292
- Patients undergoing chart review after exclusions
- 64
- Moderate to high suspicion of VEXAS
- 21
Distribution of cytoplasmic vacuolization in patients with VEXAS syndrome
- Erythroid and myeloid precursors
- 6/7
- Erythroid precursors only
- 1/7
- Myeloid precursors only
- 0/7
Original publication
Targeted testing of bone marrow specimens with cytoplasmic vacuolization to identify previously undiagnosed cases of VEXAS syndrome. Rheumatology (Oxford). Published 25 May 2023. doi:10.
Composed by AI from the published abstract and checked against it. How Briefs are made →