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The presence of ring sideroblasts (RS) and mutation of the  SF3B1  gene are diagnostic of lower‐risk (LR) myelodysplastic syndromes (MDS) and are correlated with favorable outcomes. However, information on testing and reporting in community‐based clinical settings is scarce. This study from the Connect ®  MDS/AML Disease Registry aimed to compare the frequency of RS and  SF3B1  reporting for patients with LR‐MDS, before and after publication of the 2016 World Health Organization (WHO) MDS classification criteria.    Methods  Ring sideroblasts assessment and molecular testing data were collected from patients with LR‐MDS at enrollment in the Registry. Patients enrolled between December 2013 and the data cutoff of March 2020 were included in this analysis.    Results  Among 489 patients with LR‐MDS, 434 (88.8%) underwent RS assessment; 190 were assessed prior to the 2016 WHO guidelines (Cohort A), and 244 after (Cohort B). In Cohort A, 87 (45.8%) patients had RS identified; 29 (33.3%) patients had RS < 15%, none of whom underwent molecular testing for  SF3B1 . In Cohort B, 96 (39.3%) patients had RS identified; 31 (32.3%) patients had < 15% RS, with 13 undergoing molecular testing of which 10 were assessed for  SF3B1 .    Conclusions  In the Connect ®  MDS/AML Registry, only 32% of patients with <15% RS underwent  SF3B1  testing after the publication of the WHO 2016 classification criteria. There was no change in RS assessment frequency before and after publication, despite the potential impact on diagnostic subtyping and therapy selection, suggesting an unmet need for education to increase testing rates for  SF3B1  mutations.

international journal of laboratory hematology

Real‐world diagnostic testing patterns for assessment of ring sideroblasts and  SF3B1  mutations in patients with newly diagnosed lower‐risk myelodysplastic syndromes