Clinical and biological implications of driver mutations in myelodysplastic syndromes
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Key Points: MDS is characterized by mutations in >40 genes, a complex structure of gene-gene interactions and extensive subclonal diversification. The total number of oncogenic mutations and early detection of subclonal mutations are significant prognostic variables in MDS.
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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 [1]
This paper is cited alongside references 1–4 for the 10%–20% figure in de novo MDS; the AML and therapy-related disease figures have separate citations. The Results passage on gene mutations in MDS gives frequencies for other genes but not TP53. Searches for TP53 and p53 found no passage in our copy establishing the attributed frequency. (LLM, conf=0.72)
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 [1]
The Results section mentions TP53 mutation status when showing that mutation count predicts leukemia-free survival independently of it. It does not say whether TP53-mutated patients form a distinct molecular cohort or have poor outcomes specifically. Searches for TP53 prognosis and distinct groups found no passage establishing those points. (LLM, conf=0.72)
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 [1]
The Results discuss TP53 mutation status in a survival analysis, but the passages found do not give a TP53 mutation frequency. Searches for TP53, therapy-related MDS, and the cited percentages found no passage supporting either the up-to-20% figure for MDS/AML or the 30%–40% figure for therapy-related cases. The Discussion’s 30%–40% figure refers instead to additional acquired mutations in rarely mutated genes. (LLM, conf=0.76)
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 [66]
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“28-day dose delay (1), none were treatmentrelated.”
BackgroundInfluentialSF3B1 mutation identifies a distinct subset of myelodysplastic syndrome with ring sideroblasts
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- Authors
- Papaemmanuil, E., Gerstung, M., Malcovati, L., Tauro, S., Gundem, G., Van Loo, P., Yoon, C. J., Ellis, P., Wedge, D. C., Pellagatti, A., Shlien, A., Groves, M. J., Forbes, S. A., Raine, K., Hinton, J., Mudie, L. J., McLaren, S., Hardy, C., Latimer, C., Della Porta, M. G., O’Meara, S., Ambaglio, I., Galli, A., Butler, A. P., Walldin, G., Teague, J. W., Quek, L., Sternberg, A., Gambacorti-Passerini, C., Cross, N. C. P., Green, A. R., Boultwood, J., Vyas, P., Hellstrom-Lindberg, E., Bowen, D., Cazzola, M., Stratton, M. R., & Campbell, P. J.
- Affiliations
- Wellcome Sanger Institute (GB)
- University of Pavia (IT)
- University of Dundee (GB)
- Cancer Genome Project, Wellcome Trust Sanger Institute, Hinxton, United Kingdom;
- University of Oxford (GB)
- Fondazione Istituto Di Ricovero e Cura a Carattere Scientifico, Policlinico San Matteo, University of Pavia, Pavia, Italy;
- Karolinska Institutet (SE)
- Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, United Kingdom;
- University of Milan (IT)
- University of Southampton (GB)
- University of Cambridge (GB)
- Department of Haematology, Karolinska Institute, Stockholm, Sweden;
- St James's University Hospital (GB)
- ORCID
- Papaemmanuil, Elli
- Gerstung, Moritz
- Malcovati, Luca
- Tauro, Sudhir
- Gundem, Gunes
- Wedge, David C.
- Pellagatti, Andrea
- Shlien, Adam
- Raine, Keiran
- McLaren, Stuart
- Latimer, Calli
- Walldin, Gunilla
- Teague, Jon W.
- Quek, Lynn
- Gambacorti-Passerini, Carlo
- Cross, Nicholas C. P.
- Green, Anthony R.
- Boultwood, Jacqueline
- Vyas, Paresh
- Bowen, David
- Cazzola, Mario
- Stratton, Michael R.
- Campbell, Peter J.
- Venue
- Blood
- Publisher
- American Society of Hematology
- Published
- 2013-11-21
- Volume
- 122
- Issue
- 22
- Pages
- 3616-3627
- ISSN
- 0006-4971 (ISSN-L)
- 1528-0020
- PMC
- PMC3837510
- OpenAlex
- W1993236149
- Cited by
- 1,832
- References
- 49
- Citations by year
- 2026: 56 · 2025: 87 · 2024: 118 · 2023: 152 · 2022: 161 · 2021: 182 · 2020: 200 · 2019: 165 · 2018: 155 · 2017: 172 · 2016: 154 · 2015: 125 · 2014: 85 · 2013: 16 · 2012: 2
- FWCI
- 90.86
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Blood (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- BOA (University of Milano-Bicocca) (submittedVersion)
- ePrints Soton (University of Southampton) (submittedVersion)
- Lirias (submittedVersion)
- Research Explorer (The University of Manchester) (submittedVersion)
- Funders
- Wellcome Trust (077012/Z/05/Z, 100140, 088340, WT088340MA)
- Cancer Research UK
- Topics
- Health Sciences › Medicine › Hematology › Acute Myeloid Leukemia Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Cancer Genomics and Diagnostics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Retinoids in leukemia and cellular processes
- Keywords
- myelodysplastic syndrome, driver mutations, oncogenic mutations, spliceosome, RNA splicing, epistasis, subclonal mutations, epigenetic regulators, chronic myelomonocytic leukemia, disease progression, leukemia-free survival, prognostic value, clonal evolution
- MeSH terms
- Aged, Aged, 80 and over, Epistasis, Genetic, Female, Humans, Male, Middle Aged, Mutation, Myelodysplastic Syndromes, Oncogenes, Prognosis, RNA Splicing, Cohort Studies, Leukemia, Myeloid, Acute, Leukemia, Myelomonocytic, Chronic, Spliceosomes, Disease Progression, Myelodysplastic-Myeloproliferative Diseases
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