Autoimmune Features in Myelodysplastic Syndromes: Clinical and Molecular Heterogeneity With Integrated IPSS-M...

Autoimmune features are increasingly recognized in myelodysplastic syndromes (MDS), but their clinical and molecular significance remains unclear. We aimed to characterize the clinicopathologic, cytogenetic, molecular, and prognostic features of MDS according to autoimmune status.

We retrospectively analyzed 163 patients newly diagnosed with MDS classified into 3 groups: MDS with autoimmune disease (MDS-AID; n = 27), MDS with laboratory evidence of autoimmunity only (MDS-ALE; n = 15), and MDS without autoimmune features (MDS-control; n = 121). Clinical characteristics, genomic alterations, and survival outcomes were compared among groups.

Patients with MDS-AID were younger, more often female, and were more frequently classified as lower-risk MDS subtypes, with fewer tier 1 or 2 mutations. Within lower-risk MDS subtypes, trisomy 8 and 9 were more frequent in MDS-AID than in MDS-control (P < .001 and P = .047, respectively), and MDS-ALE was characterized by an increased frequency of ASXL1 mutations (P = .01). Survival analyses showed no significant differences in overall survival or progression-free survival between MDS-AID or MDS-ALE and MDS-control in Cox proportional hazards models. In multivariable analyses, the IPSS-M score was the only variable independently associated with survival outcomes.

These findings suggest that MDS with autoimmune features exhibit clinical and molecular heterogeneity, whereas IPSS-M, but not autoimmune status, was independently associated with survival in this cohort.