Clinical characteristics and outcomes of EZH2-mutant myelodysplastic syndrome: A large single institution analysis of 1774 patients

EZH2 mutations in myeloid neoplasms are loss of function type, and have been linked to poor overall survival (OS) in patients with myelodysplastic syndrome (MDS). However, the specific determinants of outcomes in EZH2-mutant (mut) MDS are not well characterized. In this single-center retrospective s...

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Published in:Leukemia research 2023-01, Vol.124, p.106999-106999, Article 106999
Main Authors: Ball, Somedeb, Aguirre, Luis E., Jain, Akriti G., Ali, Najla Al, Tinsley, Sara M., Chan, Onyee, Kuykendall, Andrew T., Sweet, Kendra, Lancet, Jeffrey E., Sallman, David A., Hussaini, Mohammad Omar, Padron, Eric, Komrokji, Rami S.
Format: Article
Language:English
Subjects:
Aged
ASXL1
Chromosome Aberrations
Deletion 7q
Enhancer of Zeste Homolog 2 Protein - genetics
EZH2
Humans
Hypomethylating agent
Mutation
Myelodysplastic Syndromes - therapy
Myeloproliferative Disorders
Overall survival
Prognosis
Retrospective Studies
RUNX1
Transcription Factors - genetics
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Summary:EZH2 mutations in myeloid neoplasms are loss of function type, and have been linked to poor overall survival (OS) in patients with myelodysplastic syndrome (MDS). However, the specific determinants of outcomes in EZH2-mutant (mut) MDS are not well characterized. In this single-center retrospective study, clinical and genomic data were collected on 1774 patients with MDS treated at Moffitt Cancer Center. In our cohort, 83 (4.7%) patients had a pathogenic EZH2 mutation. Patients with EZH2mut MDS were older than EZH2-wild type (wt) group (median age- 72 vs. 69 years, p = 0.010). The most common co-occurring mutation in EZH2mut MDS was ASXL1, with a significantly higher frequency than EZH2wt (54% vs. 19%, p 
ISSN:0145-2126
1873-5835
DOI:10.1016/j.leukres.2022.106999