Refractory Cytopenia with Unilineage Dysplasia
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Associated Genetic Biomarkers
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. 
Refractory cytopenia with unilineage dysplasias most frequently harbor alterations in TET2, ASXL1, VAV2, PHF6, and JAK2 .
TET2 Mutation, ASXL1fs, VAV2 S525G, TET2fs, and TET2 c.5533-c.6005 Missense are the most common alterations in refractory cytopenia with unilineage dysplasia .
There is 1 clinical trial for refractory cytopenia with unilineage dysplasia, of which 1 is open and 0 are completed or closed. Of the trial that contains refractory cytopenia with unilineage dysplasia as an inclusion criterion, 1 is phase 2 (1 open).
Complex, Loss, and Monosomy are the most frequent gene inclusion criteria for refractory cytopenia with unilineage dysplasia clinical trials .
Allogeneic hematopoietic stem cell transplantation and standard of care are the most common interventions in refractory cytopenia with unilineage dysplasia clinical trials.
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.