Article

Vacuolated Marrow Cytopenias from Copper Deficiency to <em>UBA1</em>‑Mutant VEXAS: Molecular Landscape, Systematic Review, and Cost‑Efficient Diagnostic Algorithm

2025-07-22

Abstract excerpt

Vacuolated bone‑marrow precursors are a microscopic hallmark shared by diverse en-tities, from reversible copper deficiency to late‑onset autoinflammatory VEXAS syn-drome driven by somatic UBA1 mosaicism, and, more rarely, by high‑risk myeloid ne-oplasms. This molecular heterogeneity hampers timely diagnosis. We systematically searched PubMed, Web of Science and CENTRAL (December 2020–May 2025) following a PRISMA‑...

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Literature Corpus work: 907fcee5-384d-566a-9f6e-df9e66c639ba
DOI: 10.20944/preprints202507.1770.v1

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