Overview

NCI Definition: A myelodysplastic/myeloproliferative neoplasm with morphologic and clinical characteristics of refractory anemia with ring sideroblasts, marked thrombocytosis, and abnormal megakaryocytes. [1]

Refractory anemia with ringed sideroblasts associated with marked thrombocytosiss most frequently harbor alterations in SF3B1, JAK2, DNMT3A, ASXL1, and TP53 [2].

SF3B1 Mutation, SF3B1 K700E, SF3B1 Exon 15 Mutation, SF3B1 Codon 700 Missense, and JAK2 V617F are the most common alterations in refractory anemia with ringed sideroblasts associated with marked thrombocytosis [2].

Disease Details

References

1. National Cancer Institute. NCI Thesaurus Version 18.11d. https://ncit.nci.nih.gov/ncitbrowser/ [2018-08-28]. [2018-09-21].

2. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 8. This dataset does not represent the totality of the genetic landscape; see paper for more information.

3. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.