ABSTRACT
Introduction: This review examines the several lines of evidence that support the relationship between myelodysplasia and autoimmunity, i.e. their epidemiologic association, the existence of common immune-mediated physiopathologic mechanisms, and the response to similar immunosuppressive therapies. The same relationship is reviewed here considering idiopathic cytopenia of uncertain significance (ICUS) and idiopathic dysplasia of uncertain significance (IDUS), two recently recognized provisional conditions characterized by isolated/unexplained cytopenia and/or dysplasia in <10% bone marrow cells.
Areas covered: The review focuses on alterations of cytokine profiles, telomere/telomerase and toll-like receptors, and on increased myelosuppressive mediators and apoptotic markers in both myelodysplasia and autoimmunity. In addition, the presence of an autoimmune reaction directed against marrow precursors is described in refractory/relapsing autoimmune cytopenias (autoimmune hemolytic anemia, immune thrombocytopenia, chronic idiopathic neutropenia), possibly contributing to their evolution to ICUS/IDUS/bone marrow failure syndromes.
Expert commentary: The increasing availability of omics methods has fuelled the discussion on the role of somatic mutations in the pathogenesis of IDUS/ICUS, clonal hematopoiesis of indeterminate potential, and clonal cytopenias of undetermined significance, and in their possible evolution. Even more attracting is the involvement of the genetic background/accumulating somatic mutations in cytopenias with autoimmune alterations.
Declaration of interest
The author has 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.