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) [1]

Refractory cytopenia with multilineage dysplasias most frequently harbor alterations in TET2, ASXL1, U2AF1, SF3B1, and SRSF2 [2].

Most Commonly Altered Genes in Refractory Cytopenia with Multilineage Dysplasia

ASXL1fs, TET2 Mutation, U2AF1 Mutation, TET2fs, and SF3B1 Mutation are the most common alterations in refractory cytopenia with multilineage dysplasia [2].

Top Alterations in Refractory Cytopenia with Multilineage Dysplasia

Disease Details

Myelodysplastic Syndrome with Multilineage Dysplasia, MDS with Multilineage Dysplasia, Refractory Cytopenia w/ Multilineage, MDS-MLD, RCMD
Myelodysplastic Syndromes
Refractory Cytopenia with Multilineage Dysplasia and Ring Sideroblasts
OncoTree Name
MDS with Multilineage 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.