Refractory Cytopenia with Multilineage Dysplasia
Associated Genetic Biomarkers
NCI Definition: A myelodysplastic syndrome characterized by bi-cytopenia or pancytopenia and dysplastic changes in 10% or more of the cells in two or more of the myeloid cell lines. (WHO, 2001) 
Refractory cytopenia with multilineage dysplasias most frequently harbor alterations in TET2, ASXL1, U2AF1, SF3B1, and SRSF2 .
ASXL1fs, TET2 Mutation, U2AF1 Mutation, TET2fs, and SF3B1 Mutation are the most common alterations in refractory cytopenia with multilineage dysplasia .
There are 3 clinical trials for refractory cytopenia with multilineage dysplasia, of which 3 are open and 0 are completed or closed. Of the trials that contain refractory cytopenia with multilineage dysplasia as an inclusion criterion, 2 are phase 2 (2 open) and 1 is phase 3 (1 open).
Complex, Loss, and Monosomy are the most frequent gene inclusion criteria for refractory cytopenia with multilineage dysplasia clinical trials .
Allogeneic hematopoietic stem cell transplantation, cyclophosphamide, and fludarabine are the most common interventions in refractory cytopenia with multilineage dysplasia clinical trials.
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.