Overview

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

Synonyms
Myelodysplastic Syndrome with Single Lineage Dysplasia, MDS-SLD, RCUD, MDS with Single Lineage Dysplasia
Parent(s)
Myelodysplastic Syndromes
Children
Refractory Anemia
OncoTree Name
MDS with Single Lineage Dysplasia
OncoTree Code
MDSSLD

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.