NCI Definition: A myelodysplastic syndrome characterized by dysplastic changes involving only one myeloid cell lineage in the bone marrow. It primarily affects older adults and includes refractory anemia, refractory neutropenia, and refractory thrombocytopenia. [1]

Refractory cytopenia with unilineage dysplasias most frequently harbor alterations in TET2, ASXL1, VAV2, PHF6, and JAK2 [2].

Most Commonly Altered Genes in Refractory Cytopenia with Unilineage Dysplasia

TET2 Mutation, ASXL1fs, VAV2 S525G, TET2fs, and TET2 c.5533-c.6005 Missense are the most common alterations in refractory cytopenia with unilineage dysplasia [2].

Top Alterations in Refractory Cytopenia with Unilineage Dysplasia

Disease Details

MDS with Single Lineage Dysplasia, Myelodysplastic Syndrome with Single Lineage Dysplasia, RCUD, MDS-SLD
Myelodysplastic Syndromes
Refractory Anemia
OncoTree Name
MDS with Single Lineage Dysplasia
OncoTree Code


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.