Clinical Effect of Point Mutations in Myelodysplastic Syndromes
Open accessAbstract
BACKGROUND: Myelodysplastic syndromes are clinically heterogeneous disorders characterized by clonal hematopoiesis, impaired differentiation, peripheral-blood cytopenias, and a risk of progression to acute myeloid leukemia. Somatic mutations may influence the clinical phenotype but are not included in current prognostic scoring systems. METHODS: We used a combination of genomic approaches, including next-generation sequencing and mass spectrometry-based genotyping, to identify mutations in samples of bone marrow aspirate from 439 patients with myelodysplastic syndromes. We then examined whether the mutation status for each gene was associated with clinical variables, including specific cytopenias, the proportion of blasts, and overall survival. RESULTS: We identified somatic mutations in 18 genes, including two, ETV6 and GNAS, that have not been reported to be mutated in patients with myelodysplastic syndromes. A total of 51% of all patients had at least one point mutation, including 52% of the patients with normal cytogenetics. Mutations in RUNX1, TP53, and NRAS were most strongly associated with severe thrombocytopenia (P<0.001 for all comparisons) and an increased proportion of bone marrow blasts (P<0.006 for all comparisons). In a multivariable Cox regression model, the presence of mutations in five genes retained independent prognostic significance: TP53 (hazard ratio for death from any cause, 2.48; 95% confidence interval [CI], 1.60 to 3.84), EZH2 (hazard ratio, 2.13; 95% CI, 1.36 to 3.33), ETV6 (hazard ratio, 2.04; 95% CI, 1.08 to 3.86), RUNX1 (hazard ratio, 1.47; 95% CI, 1.01 to 2.15), and ASXL1 (hazard ratio, 1.38; 95% CI, 1.00 to 1.89). CONCLUSIONS: Somatic point mutations are common in myelodysplastic syndromes and are associated with specific clinical features. Mutations in TP53, EZH2, ETV6, RUNX1, and ASXL1 are predictors of poor overall survival in patients with myelodysplastic syndromes, independently of established risk factors. (Funded by the National Institutes of Health and others.).
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TP53 gene mutations are detected in approximately 10%-20% of patients with de novo MDS or AML and 30%-40% of patients with therapy-related disease.
“TP53 gene mutations are detected in approximately 10%-20% of patients with de novo myelodysplastic syndromes (MDS)1-4 or acute myeloid leukemia (AML)5,6 and 30%-40% of patients with therapy-related disease.7”
From Eprenetapopt (APR-246) and Azacitidine in <i>TP53</i> -Mutant Myelodysplastic Syndromes (2021) · cites this paper as [4]
The cited paper is attached to the de novo MDS portion of the sentence, not the AML or therapy-related estimates. Its Results report 33 TP53-mutant samples among 439 MDS samples (about 7.5%), but do not give a 10%–20% rate specifically for de novo MDS. The paper supports detection of TP53 mutations in MDS, not the attributed prevalence estimate. (LLM, conf=0.83)
Experimental — accuracy not yet measuredTP53 gene mutations (mTP53) represent a distinct molecular cohort with poor outcomes.
“TP53 gene mutations (mTP53) represent a distinct molecular cohort with poor outcomes.”
From Long‐term follow‐up and combined Phase 2 results of eprenetapopt and azacitidine in patients with <i>TP53</i> mutant MDS/AML (2025) · cites this paper as [2]
The Discussion says TP53 mutations were strongly associated with shorter overall survival after adjustment for IPSS risk group. It suggests a distinct molecular subclass specifically for patients with both mutant TP53 and a complex karyotype, not for all patients with TP53 mutations. (LLM, conf=0.86)
Experimental — accuracy not yet measuredmTP53 is found in up to 20% of MDS/AML and 30-40% of therapy-related MDS/AML cases.
“TP53 gene mutations (mTP53) are found in up to 20% of myelodysplastic syndromes/neoplasms (MDS) or acute myeloid leukemia (AML) pts and 30%–40% of therapy‐related (TR) MDS/AML cases”
From Long‐term follow‐up and combined Phase 2 results of eprenetapopt and azacitidine in patients with <i>TP53</i> mutant MDS/AML (2025) · cites this paper as [2]
The Results section reports 33 TP53-mutant MDS samples, supporting the claim that TP53 mutations occur in MDS. It does not establish an 'up to 20%' rate for MDS or AML, and no passage found reports a 30–40% rate in therapy-related MDS/AML; searches targeted those percentages and therapy-related disease. Page numbers were not available in our copy. (LLM, conf=0.83)
Experimental — accuracy not yet measuredMany of the most commonly seen mutations in CHIP are also recurrent drivers of AML, myelodysplastic syndrome (MDS), myeloproliferative neoplasms, and certain lymphomas.
“But many of the most commonly seen mutations in CHIP are also recurrent drivers of AML 64, myelodysplastic syndrome (MDS) 65–67, myeloproliferative neoplasms 68, and certain lymphomas 69,70.”
From Clonal hematopoiesis in human aging and disease (2019) · cites this paper as [65]
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- Authors
- Bejar, R., Stevenson, K., Abdel-Wahab, O., Galili, N., Nilsson, B., Garcia-Manero, G., Kantarjian, H., Raza, A., Levine, R. L., Neuberg, D., & Ebert, B. L.
- Affiliations
- Brigham and Women's Hospital (US)
- Dana-Farber Cancer Institute (US)
- Memorial Sloan Kettering Cancer Center (US)
- NewYork–Presbyterian Hospital (US)
- The University of Texas MD Anderson Cancer Center (US)
- ORCID
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 2011-06-30
- Volume
- 364
- Issue
- 26
- Pages
- 2496-2506
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- PMC
- PMC3159042
- OpenAlex
- W2070152906
- Cited by
- 1,627
- References
- 36
- Citations by year
- 2026: 30 · 2025: 53 · 2024: 75 · 2023: 88 · 2022: 95 · 2021: 127 · 2020: 122 · 2019: 101 · 2018: 107 · 2017: 147 · 2016: 139 · 2015: 142 · 2014: 131 · 2013: 133 · 2012: 107
- FWCI
- 86.87
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- New England Journal of Medicine (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Lund University Publications (Lund University) (submittedVersion)
- Funders
- European Hematology Association (TRTH32)
- Wellcome Trust
- National Heart, Lung, and Blood Institute (R01HL082945, T32HL007623)
- National Cancer Institute (P01CA108631)
- Topics
- Health Sciences › Medicine › Hematology › Acute Myeloid Leukemia Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Retinoids in leukemia and cellular processes
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Cancer Genomics and Diagnostics
- Keywords
- e, myelodysplastic syndrome, somatic point mutations, prognostic factors, TP53, EZH2, ETV6, RUNX1, ASXL1, thrombocytopenia, bone marrow blasts, overall survival, clonal hematopoiesis, acute myeloid leukemia progression, GNAS, NRAS, TP53 mutation
- MeSH terms
- Bone Marrow Cells, DNA Mutational Analysis, Genotype, Humans, Middle Aged, Myelodysplastic Syndromes, Prognosis, Mass Spectrometry, Proportional Hazards Models, Survival Analysis, Point Mutation, Sequence Analysis, DNA, Cytogenetic Analysis
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