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Refractory anemia with ring sideroblasts and RARS with thrombocytosis.
- Source :
-
American journal of hematology [Am J Hematol] 2015 Jun; Vol. 90 (6), pp. 549-59. - Publication Year :
- 2015
-
Abstract
- Disease Overview: Ring sideroblasts (RS) are erythroid precursors with abnormal perinuclear mitochondrial iron accumulation. Two myeloid neoplasms defined by the presence of RS, include refractory anemia with ring sideroblasts (RARS) and RARS with thrombocytosis (RARS-T).<br />Diagnosis: RARS is a lower risk myelodysplastic syndrome (MDS) with dysplasia limited to the erythroid lineage, <5% bone marrow (BM) blasts and ≥15% BM RS. RARS-T is a provisional entity in the MDS/MPN (myeloproliferative neoplasm) overlap syndromes, with diagnostic features of RARS, along with a platelet count ≥450 × 10(9)/L and large atypical megakaryocytes similar to those observed in BCR-ABL1 negative MPN. Mutations and Karyotype: Mutations in the SF3B1 gene are seen in ≥80% of patients with RARS and RARS-T, and strongly correlate with the presence of BM RS; RARS-T patients have additional mutations such as, JAK2V617F (∼60%), MPL (<5%), and CALR (<5%). Cytogenetic abnormalities are uncommon in both RARS and RARS-T.<br />Risk Stratification: Most patients with RARS are stratified into lower risk groups by the International Prognostic Scoring System (IPSS) for MDS and the revised IPSS. Disease outcome in RARS-T is better than that of RARS, but worse than that of essential thrombocytosis. Both RARS and RARS-T have a low risk of leukemic transformation.<br />Treatment: Anemia and iron overload are complications in both diseases and are managed similar to lower risk MDS. Aspirin therapy is reasonable in RARS-T, especially in the presence of JAK2V617F, but the value of platelet-lowering drugs is uncertain. Case reports of RARS-T therapy with lenalidomide warrant additional studies.<br /> (© 2015 Wiley Periodicals, Inc.)
- Subjects :
- Aspirin therapeutic use
Female
Humans
Iron Overload drug therapy
Iron Overload genetics
Iron Overload pathology
Janus Kinase 2 genetics
Lenalidomide
Male
Mutation
Myelodysplastic Syndromes drug therapy
Myelodysplastic Syndromes genetics
Myelodysplastic Syndromes pathology
Phosphoproteins genetics
Platelet Aggregation Inhibitors therapeutic use
RNA Splicing Factors
Receptors, Thrombopoietin genetics
Ribonucleoprotein, U2 Small Nuclear genetics
Risk Factors
Thalidomide analogs & derivatives
Thalidomide therapeutic use
Anemia, Refractory drug therapy
Anemia, Refractory genetics
Anemia, Refractory pathology
Anemia, Sideroblastic drug therapy
Anemia, Sideroblastic genetics
Anemia, Sideroblastic pathology
Angiogenesis Inhibitors therapeutic use
Thrombocytosis drug therapy
Thrombocytosis genetics
Thrombocytosis pathology
Subjects
Details
- Language :
- English
- ISSN :
- 1096-8652
- Volume :
- 90
- Issue :
- 6
- Database :
- MEDLINE
- Journal :
- American journal of hematology
- Publication Type :
- Academic Journal
- Accession number :
- 25899435
- Full Text :
- https://doi.org/10.1002/ajh.24038