ABSTRACT
Introduction
The recent description of VEXAS (for vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) challenges the nosological framework of myelodysplastic syndromes.
Areas covered
Clonal expansion driven by somatic mutations in cancer genes has been largely described in healthy aging individuals. Regarding hematopoiesis, the prevalence of clonal hematopoiesis has blurred the line between normal and pathological, especially for the definition of myelodysplastic syndromes. VEXAS syndrome further challenges the nosology as this clonal disease of hematopoiesis is also associated with dysplastic features and cytopenias.
Expert opinion
In this perspective, we discuss whether VEXAS should be considered a genuine myelodysplastic syndrome and propose a conceptual framework to refine the nosology, based on the distinction of clonal hematopoiesis of indeterminate potential (CHIP), clonal hematopoiesis of hematological significance, and clonal hematopoiesis of other significance.
Article highlights
VEXAS meets all the defining criteria of myelodysplastic syndrome (clonality, dysmyelopoiesis, and cytopenias)
VEXAS is an example of clonal hematopoiesis of extra-hematological significance, which expands the spectrum of clonal hematopoiesis
Declaration of interest
The authors have no relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.
Reviewer disclosures
Peer reviewers on this manuscript have no relevant financial or other relationships to disclose.