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Myelodysplastic/Myeloproliferative Neoplasm with Ring Sideroblasts and Thrombocytosis, Not Otherwise Specified

MedGen UID:
414880
Concept ID:
C2826330
Neoplastic Process
Synonyms: Essential Thrombocythemia with Ring Sideroblasts; MDS/MPN with Ring Sideroblasts and Thrombocytosis; Myelodysplastic/Myeloproliferative Neoplasm with Ring Sideroblasts and Thrombocytosis; Myelodysplastic/Myeloproliferative Neoplasm with Ring Sideroblasts and Thrombocytosis, NOS; Refractory Anemia with Ring Sideroblasts Associated with Marked Thrombocytosis

Definition

A myelodysplastic/myeloproliferative neoplasm characterized by marked thrombocytosis, anemia, erythroid lineage dysplasia, presence or absence of multilineage dysplasia, 15% or more ring sideroblasts, blasts less than 5% in bone marrow and less than 1% in peripheral blood, absence of BCR/ABL fusion, absence of SF3B1 mutation, absence of genetic abnormalities associated with myeloid/lymphoid neoplasms with eosinophilia and tyrosine kinase gene fusions, and no history of other myelodysplastic/myeloproliferative neoplasms or myeloproliferative neoplasms and myelodysplastic syndromes. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMyelodysplastic/Myeloproliferative Neoplasm with Ring Sideroblasts and Thrombocytosis, Not Otherwise Specified

Professional guidelines

PubMed

Tefferi A, Vannucchi AM, Barbui T
Am J Hematol 2024 Apr;99(4):697-718. Epub 2024 Jan 25 doi: 10.1002/ajh.27216. PMID: 38269572
Komrokji R, Melody M, Al Ali N, Chan O, Klimek V, Ball BJ, Sekeres MA, Lucas G, Maciejewski JP, Sallman DA, Padron E, Kuykendall A, Lasho T, Al-Kali A, Naqvi K, Steensma DP, Garcia-Manero G, Patnaik MM
Leuk Lymphoma 2022 Jan;63(1):199-204. Epub 2021 Aug 27 doi: 10.1080/10428194.2021.1971217. PMID: 34448437
Patnaik MM, Tefferi A
Am J Hematol 2021 Mar 1;96(3):379-394. Epub 2021 Jan 28 doi: 10.1002/ajh.26090. PMID: 33428785

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