Clinical analysis and literature review of a case with the myelodysplastic syndrome/myeloproliferative neoplasm with ring sideroblasts and thrombocytosis.

Objective

Myelodysplastic syndrome/myeloproliferative neoplasm with ring sideroblasts and thrombocytosis (MDS/MPN-RS-T) is a new disease entity in the 2016 WHO classification, characterized by anemia, thrombocytosis and bone marrow ring sideroblasts. We herein reported a case of MDS/MPN-RS-T and discuss its clinical characteristics.

Methods

A 69-year-old woman presented to our hospital with recurrent dizziness and fatigue. Hematologic investigations, bone marrow analysis and genomic DNA sequencing studies were performed.

Results

Peripheral blood testing showed normocytes anemia and thrombocytosis, and bone marrow analysis revealed hypercellular with clusters of megakaryocytes and 95% ring sideroblasts (RS). She had a normal karyotype and was found to have SF3B1 mutations. Decitabine therapy produced a clinical response and disease remission in this patient.

Conclusions

Our report provides a definite conceptual framework for a better understanding of the characteristics of MDS/MPN-RS-T.