Myelodysplastic Syndrome with Isolated del(5q)
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Associated Genetic Biomarkers
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) 
Myelodysplastic syndrome with isolated del(5q)s most frequently harbor alterations in ASXL1, ZRSR2, U2AF1, TP53, and TET2 .
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) .
There are 3 clinical trials for myelodysplastic syndrome with isolated del(5q), of which 3 are open and 0 are completed or closed. Of the trials that contain myelodysplastic syndrome with isolated del(5q) as an inclusion criterion, 1 is early phase 1 (1 open) and 2 are phase 2 (2 open).
del(5)(q10), Complex, and Loss are the most frequent gene inclusion criteria for myelodysplastic syndrome with isolated del(5q) clinical trials .
Allogeneic hematopoietic stem cell transplantation, azacitidine, and cyclophosphamide are the most common interventions in myelodysplastic syndrome with isolated del(5q) 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.