Overview

NCI Definition: A myelodysplastic syndrome characterized by bi-cytopenia or pancytopenia, dysplastic changes in 10% or more of the cells in two or more of the myeloid cell lines, and 15% or more ring sideroblasts in the bone marrow. (WHO, 2001) [1]

Refractory cytopenia with multilineage dysplasia and ring sideroblastss most frequently harbor alterations in SF3B1, TET2, TP53, ASXL1, and SRSF2 [2].

Most Commonly Altered Genes in Refractory Cytopenia with Multilineage Dysplasia and 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 cytopenia with multilineage dysplasia and ring sideroblasts [2].

Top Alterations in Refractory Cytopenia with Multilineage Dysplasia and Ring Sideroblasts

Disease Details

Synonyms
MDS-RS-MLD, MDS with Ring Sideroblasts and Multilineage Dysplasia, Refractory Cytopenia with Multilineage Dysplasia and Ringed Sideroblasts, Myelodysplastic Syndrome with Ring Sideroblasts and Multilineage Dysplasia, RCMD-RS
Parent(s)
Refractory anemia with ring sideroblasts
OncoTree Name
MDS with Ring Sideroblasts and Multilineage Dysplasia
OncoTree Code
MDSRSMD

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.