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Refractory anemia with ring sideroblasts (RARS) and RARS with thrombocytosis (RARS-T): 2017 update on diagnosis,

Mrinal M Patnaik1, Ayalew Tefferi1

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Summary
This summary is machine-generated.

Myelodysplastic syndromes with ring sideroblasts (MDS-RS) and MDS/myeloproliferative neoplasm with ring sideroblasts and thrombocytosis (MDS/MPN-RS-T) are distinct myeloid neoplasms. SF3B1 mutations are common in both, influencing diagnosis and prognosis.

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Area of Science:

  • Hematology
  • Oncology
  • Genetics

Background:

  • Ring sideroblasts (RS) characterize specific myeloid neoplasms, including myelodysplastic syndromes with RS (MDS-RS) and the overlapping entity MDS/myeloproliferative neoplasm with RS and thrombocytosis (MDS/MPN-RS-T).
  • These conditions involve abnormal iron accumulation in erythroid precursors.

Purpose of the Study:

  • To delineate the diagnostic criteria and prognostic factors for MDS-RS and MDS/MPN-RS-T.
  • To highlight the role of genetic mutations, particularly SF3B1, in these diseases.

Main Methods:

  • Review of diagnostic features including bone marrow morphology, blast percentage, and cytogenetics.
  • Analysis of mutation profiles, including SF3B1, JAK2V617F, ASXL1, DNMT3A, SETBP1, and TET2.
  • Application of prognostic scoring systems like the revised-International Prognostic Scoring System (R-IPSS).

Main Results:

  • MDS-RS is a lower-risk MDS, while MDS/MPN-RS-T presents with thrombocytosis and specific megakaryocyte morphology.
  • SF3B1 mutations are found in over 80% of MDS-RS and MDS/MPN-RS-T cases, correlating with RS presence.
  • ASXL1 and SETBP1 mutations are associated with adverse survival in MDS/MPN-RS-T.

Conclusions:

  • MDS-RS and MDS/MPN-RS-T are distinct entities with overlapping genetic features, primarily SF3B1 mutations.
  • Prognosis varies, with MDS/MPN-RS-T generally having a better outcome than other MDS/MPN overlap syndromes but worse than essential thrombocythemia.
  • Management of anemia and iron overload is standard, while aspirin use is considered for MDS/MPN-RS-T, particularly with JAK2V617F.