NCI Definition: A myelodysplastic syndrome characterized by a deletion between bands q31 and 33 on chromosome 5. The number of blasts in the bone marrow and blood is <5%. The bone marrow is usually hypercellular or normocellular with increased number of often hypolobated megakaryocytes. The peripheral blood shows macrocytic anemia. This syndrome occurs predominantly but not exclusively in middle age to older women. The prognosis is good and transformation to acute leukemia is rare. (WHO, 2001) [1]

Myelodysplastic syndrome with isolated del(5q)s most frequently harbor alterations in ASXL1, ZRSR2, U2AF1, TP53, and TET2 [2].

Most Commonly Altered Genes in Myelodysplastic Syndrome with Isolated del(5q)

ZRSR2 Mutation, ZRSR2 A283V, U2AF1 S34F, U2AF1 Mutation, and U2AF1 Exon 2 Mutation are the most common alterations in myelodysplastic syndrome with isolated del(5q) [2].

Top Alterations in Myelodysplastic Syndrome with Isolated del(5q)

Disease Details

Myelodysplastic Syndrome with 5q Deletion, 5q- Syndrome, 5Q- syndrome, 5Q minus syndrome, Myelodysplastic Syndrome Associated with Isolated del (5q) Chromosome Abnormality, MDS with Isolated Del(5q)
Myelodysplastic Syndromes
OncoTree Name
MDS with Isolated Del(5q)
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.