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Recent findings have identified that the presence of ring sideroblasts in these disorders has a unique molecular basis, i.e., the somatic mutation of <jats:italic><jats:styled-content style=\"fixed-case\">SF<\/jats:styled-content>3B1<\/jats:italic>, a gene encoding a splicing factor. Mutations of <jats:italic><jats:styled-content style=\"fixed-case\">SF<\/jats:styled-content>3B1<\/jats:italic> occur in up to 90% of patients with refractory anaemia with unilineage dysplasia (<jats:styled-content style=\"fixed-case\">RARS<\/jats:styled-content>) and 70% of those with refractory cytopenia with multilineage dysplasia and ring sideroblasts or <jats:styled-content style=\"fixed-case\">RARS<\/jats:styled-content> associated with marked thrombocytosis. Experimental evidence has shown that mutant <jats:italic><jats:styled-content style=\"fixed-case\">SF<\/jats:styled-content>3B1<\/jats:italic> results in the abnormal splicing of several genes, primarily due to misrecognition of 3\u2032 splice sites. The resulting aberrant <jats:styled-content style=\"fixed-case\">mRNA<\/jats:styled-content>s undergo nonsense\u2010mediated <jats:styled-content style=\"fixed-case\">mRNA<\/jats:styled-content> decay (<jats:styled-content style=\"fixed-case\">NMD<\/jats:styled-content>), resulting in haploinsufficiency of canonical transcripts and protein expression. In addition, it is also possible that <jats:styled-content style=\"fixed-case\">NMD<\/jats:styled-content>\u2010insensitive aberrant transcripts are translated into proteins with altered function. Patients with <jats:styled-content style=\"fixed-case\">MDS<\/jats:styled-content> carrying the <jats:italic><jats:styled-content style=\"fixed-case\">SF<\/jats:styled-content>3B1<\/jats:italic> mutation show a homogeneous disease phenotype characterized by isolated erythroid dysplasia and mild dysplasia in granulocytic or megakaryocytic lineages, supporting the notion that the <jats:italic><jats:styled-content style=\"fixed-case\">SF<\/jats:styled-content>3B1<\/jats:italic> mutation identifies a distinct entity within <jats:styled-content style=\"fixed-case\">MDS<\/jats:styled-content>. The available evidence suggests that these findings may have relevant impact on the diagnosis, classification and management of patients with these neoplasms.<\/jats:p>","DOI":"10.1111\/bjh.14215","type":"journal-article","created":{"date-parts":[[2016,7,8]],"date-time":"2016-07-08T12:49:44Z","timestamp":1467982184000},"page":"847-858","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":29,"title":["Recent advances in the understanding of myelodysplastic syndromes with ring sideroblasts"],"prefix":"10.1111","volume":"174","author":[{"given":"Luca","family":"Malcovati","sequence":"first","affiliation":[{"name":"Department of Molecular Medicine University of Pavia Pavia Italy"},{"name":"Department of Haematology Oncology Fondazione Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Policlinico San Matteo Pavia 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