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Refractory anemia with ring sideroblasts

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Associated Genetic Biomarkers

Overview

NCI Definition: A myelodysplastic syndrome characterized by an anemia in which 15% or more of the erythroid precursors are ring sideroblasts. The ring sideroblast is an erythroid precursor in which one third or more of the nucleus is encircled by granules which are positive for iron stain. (WHO, 2001) [1]

Refractory anemia with ring sideroblastss most frequently harbor alterations in SF3B1, TET2, DNMT3A, ASXL1, and TP53 [2].

Most Commonly Altered Genes in Refractory anemia with ring sideroblasts

SF3B1 Mutation, SF3B1 K700E, SF3B1 Exon 15 Mutation, SF3B1 Codon 700 Missense, and SF3B1 Exon 14 Mutation are the most common alterations in refractory anemia with ring sideroblasts [2].

Top Alterations in Refractory anemia with ring sideroblasts

Clinical Trials

View Clinical Trials for Refractory anemia with ring sideroblasts

Significant Genes in Refractory anemia with ring sideroblasts

MECOM +

MLF1 +

NPM1 +

RPN1 +

Disease Details

Synonyms
Pure Sideroblastic Anemia, MDS with Ring Sideroblasts, Refractory Anemia with Ring Sideroblasts, Myelodysplastic Syndrome with Ring Sideroblasts, MDS-RS, RARS, Refractory Anemia with Ringed Sideroblasts
Parent(s)
Myelodysplastic Syndromes
Children
Myelodysplastic Syndrome with Ring Sideroblasts and Single Lineage Dysplasia and Refractory Cytopenia with Multilineage Dysplasia and Ring Sideroblasts
OncoTree Name
MDS with Ring Sideroblasts
OncoTree Code
MDSRS

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.