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TP53 Mutations in Low-Risk Myelodysplastic Syndromes With del(5q) Predict Disease Progression
Abstract
Purpose: To determine the frequency of TP53 mutations and the level of p53 protein expression by immunohistochemistry (IHC) in low-risk myelodysplastic syndromes (MDS) with del(5q) and to assess their impact on disease progression. Patients and Methods: Pre- and postprogression bone marrow (BM) samples from 55 consecutive patients with International Prognostic Scoring System low risk (n = 32) or intermediate-1 risk (n = 23) were studied by next-generation sequencing of TP53. IHC for p53 was performed on 148 sequential BM samples. Results: TP53 mutations with a median clone size of 11% (range, 1% to 54%) were detected in 10 patients (18%) already at an early phase of the disease. Mutations were equally common in low-risk and intermediate-1–risk patients and were associated with evolution to acute myeloid leukemia (5 of 10 v 7 of 45; P = .045). Nine of 10 patients carrying mutations showed more than 2% BM progenitors with strong p53 staining. The probability of a complete cytogenetic response to lenalidomide was lower in mutated patients (0 of 7 v 12 of 24; P = .024). Conclusion: By using sensitive deep-sequencing technology, we demonstrated that TP53 mutated populations may occur at an early disease stage in almost a fifth of low-risk MDS patients with del(5q). Importantly, mutations were present years before disease progression and were associated with an increased risk of leukemic evolution. TP53 mutations could not be predicted by common clinical features but were associated with p53 overexpression. Our findings indicate a previously unrecognized heterogeneity of the disease which may significantly affect clinical decision making.
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“Of note, IKZF1 is expressed throughout haematopoiesis and regulates myeloid cell development and function100.”
From Cancer therapies based on targeted protein degradation — lessons learned with lenalidomide (2021) · cites this paper as [100]
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“When Ck1α was further degraded upon lenalidomide treatment, this resulted in the activation of p53 leading to the induction of apoptosis.”
From Cereblon and its downstream substrates as molecular targets of immunomodulatory drugs (2016) · cites this paper as [32]
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“It was also found that upon the binding of IMiDs to CRBN, original substrates (e.g.MEIS2) of CRBN are spared from ubiquitination and degradation, and accumulate [32].”
From Cereblon and its downstream substrates as molecular targets of immunomodulatory drugs (2016) · cites this paper as [32]
Citations
Cites
WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues
Swerdlow, S. H. (2017) · Medical Entomology and Zoology · Cited by 12,933
International scoring system for evaluating prognosis in myelodysplastic syndromes
Greenberg, P., Cox, C., LeBeau, M. M., Fenaux, P., Morel, P., Sanz, G., Sanz, M., Vallespi, T., Hamblin, T., Oscier, D., et al. (1997) · Blood · doi:10.1182/blood.v89.6.2079 · Cited by 4,427
Self-citationMalcovati, L., Germing, U., Kuendgen, A., Porta, M. G. D., Pascutto, C., Invernizzi, R., Giagounidis, A. A. N., Hildebrandt, B., BERNASCONI, P. P., Knipp, S., et al. (2007) · Journal of Clinical Oncology · doi:10.1200/jco.2006.08.5696 · Cited by 1,029
Wattel, E., Preudhomme, C., Hecquet, B., Vanrumbeke, M., Quesnel, B., Dervite, I., Morel, P., & Fenaux, P. (1994) · Blood · doi:10.1182/blood.v84.9.3148.3148 · Cited by 592
A p53-dependent mechanism underlies macrocytic anemia in a mouse model of human 5q– syndrome
Barlow, J. L., Drynan, L. F., Hewett, D. R., Holmes, L. R., Lorenzo-Abalde, S., Lane, A. L., Jolin, H. E., Pannell, R., Middleton, A. J., Wong, S. H., et al. (2009) · Nature Medicine · doi:10.1038/nm.2063 · Cited by 349
Christiansen, D. H., Andersen, M. K., & Pedersen-Bjergaard, J. (2001) · Journal of Clinical Oncology · doi:10.1200/jco.2001.19.5.1405 · Cited by 308
RAS, FMS and p53 mutations and poor clinical outcome in myelodysplasias: a 10-year follow-up
Padua, R. A., Guinn, B., Al-Sabah, A., Smith, M. T., Taylor, C., Pettersson, T., Ridge, S. A., Carter, G., White, D., Oscier, D. G., et al. (1998) · Leukemia · doi:10.1038/sj.leu.2401044 · Cited by 213
Giagounidis, A. A. N., Germing, U., Haase, S. P., Hildebrandt, B., Schlegelberger, B., Schoch, C., Wilkens, L., Heinsch, M., Willems, H. P. J., Aivado, M. A., et al. (2003) · Leukemia · doi:10.1038/sj.leu.2403189 · Cited by 210
Self-citationLaï, J., Preudhomme, C., Zandecki, M., FLACTIF, M., Vanrumbeke, M., Lepelley, P., Wattel, E., & Fenaux, P. (1995) · PubMed · Cited by 197
Mutations of the p53 gene in myelodysplastic syndrome (MDS) and MDS- derived leukemia
Sugimoto, K., Hirano, N., Toyoshima, H., Chiba, S., Mano, H., Takaku, F., Yazaki, Y., & Hirai, H. (1993) · Blood · doi:10.1182/blood.v81.11.3022.3022 · Cited by 123
Research works printed but not linked: 9
- Preudhomme C, 1994, Leukemia, 8, 2241
- Lai JL, 1995, Leukemia, 9, 370
- Kitagawa M, 1994, Am J Pathol, 145, 338
- Ludwig L, 1992, Leukemia, 6, 1302
- Fidler C, 2004, Haematologica, 89, 865
- Fenaux P, 1990, Nouv Rev Fr Hematol, 32, 341
- Lepelley P, 1994, Leukemia, 8, 1342
- Ramos F, 2002, Haematologica, 87, 381
- Orazi A, 1996, Mod Pathol, 9, 48
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Rujirachaivej, P., Siriboonpiputtana, T., Rerkamnuaychoke, B., Magmuang, S., Chareonsirisuthigul, T., Boonsakan, P., Petvises, S., Sirirat, T., Niparuck, P., & Chuncharunee, S. (2018) · Europe PMC (PubMed Central) · doi:10.22034/apjcp.2018.19.7.1825 · Cited by 1
Thol, F. R., Heuser, M., & Ganser, A. (2015) · Der Internist · doi:10.1007/s00108-014-3598-3 · Cited by 2
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Bedekovics, J., Madarász, K., Mokánszki, A., Molnár, S., Mester, Á., Miltényi, Z., & Méhes, G. (2024) · Histopathology · doi:10.1111/his.15185 · Cited by 1
Fuchs, O. (2013) · InTech eBooks · doi:10.5772/52099 · Cited by 1
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Duarte, F. B., dos Santos, T. E. D. J., Barbosa, M. C., Kaufman, J., de Vasconcelos, J. P. L., Lemes, R. P. G., Rocha, F. D., Coutinho, D. F., Zalcberg, I. R., & de Vasconcelos, P. R. L. (2016) · Revista da Associação Médica Brasileira · doi:10.1590/1806-9282.62.suppl1.25 · Cited by 1
Magalhães, S. M. M., Niero-Melo, L., Chauffaille, M. D. L., Velloso, E. D. R. P., Lorand-Metze, I. G. H., Buzzini, R. F., & Bernardo, W. M. (2018) · Hematology Transfusion and Cell Therapy · doi:10.1016/j.htct.2018.05.004 · Cited by 1
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Olney, H. J., & Beau, M. M. L. (2015) · Wiley eBooks · doi:10.1002/9781118795569.ch7 · Cited by 1
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Rivero, G., & Gore, S. D. (2013) · Springer eBooks · doi:10.1007/978-3-642-36229-3_6
Teng, T. (2013) · OhioLink ETD Center (Ohio Library and Information Network)
Müller, N., Hofmann, W.-K., & Nolte, F. (2012) · Der Onkologe · doi:10.1007/s00761-012-2338-3
Zhang, L., Wu, X., Guan, P., & Qiu, L. (2015) · PubMed Central · doi:10.3760/cma.j.issn.0253-2727.2015.08.022
Caracterització clínico-biològica de les síndromes mielodisplàstiques amb deleció 5q
Mallo, M. (2013) · TDX (Tesis Doctorals en Xarxa)
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Al‐Anazi, K. A. (2016) · InTech eBooks · doi:10.5772/64202 · Cited by 1
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Joo, J. W., Konoplev, S. N., McDonnell, T. J., & Ok, C. Y. (2017) · Journal of Hematopathology · doi:10.1007/s12308-017-0298-7
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Haase, D. T. (2019) · best practice onkologie · doi:10.1007/s11654-019-00167-6
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Fink, E. C. (2018) · Digital Access to Scholarship at Harvard (DASH) (Harvard University)
[Clinical analyses of 50 cases of myelodysplastic syndrome with deletion of chromosome 5q].
He, Y., Du, X., Weng, J. Y., Deng, C., Geng, S., Lu, Z. S., Li, M. M., Liao, P., Luo, C., Wu, S.-P., et al. (2017) · PubMed Central · doi:10.3760/cma.j.issn.0253-2727.2017.02.013
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BS, F. B. J. B. M., & ChB, F. M. L. M. (2024) · Wiley eBooks · doi:10.1002/9781394218615.ch5
Bug, G. (2024) · Elsevier eBooks · doi:10.1016/b978-3-437-21011-2.00026-0
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Culebras, M. G., Alcalde, P., Márquez-Malaver, F. J., Carrillo, E., Soria, E., Prats‐Martín, C., Morales, R. M., Vargas, M. T., Pérez‐Simón, J. A., & Falantes, J. F. (2024) · British Journal of Haematology · doi:10.1111/bjh.19714
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Wang, L., He, H., Li, Y., Wang, X., Yu, J., Huang, Y., Yu, K., He, J., Zhao, M., Xie, T., et al. (2024) · Pathology - Research and Practice · doi:10.1016/j.prp.2024.155717
Ungerstedt, J. S., Tobiasson, M., & Hellström‐Lindberg, E. (2025) · Wiley eBooks · doi:10.1002/9781119706687.ch34
Self-citationOmeostasi dei telomeri nelle sindromi mielodisplastiche
Berardinelli, E. (2014) · Università Politecnica delle Marche (Università Politecnica delle Marche)
Myelodysplastic Syndromes in Older Patients
Stauder, R. (2014) · Springer eBooks · doi:10.1007/978-1-4471-2837-3_3
Patkowska, E., Prochorec‐Sobieszek, M., Wojtas, M., & Białopiotrowicz, E. (2025) · Hematologia — Edukacja · doi:10.5603/hemedu.104862
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Coelho‐Silva, J. L., & Machado‐Neto, J. A. (2026) · Molecular Cancer · doi:10.1186/s12943-026-02749-9
Wu, X., Zhao, J., Fan, Y., Yang, X., & Yang, X. (2026) · Frontiers in Oncology · doi:10.3389/fonc.2026.1882599
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Metadata
- Authors
- Jädersten, M., Saft, L., Smith, A., Kulasekararaj, A., Pomplun, S., Göhring, G., Hedlund, A., Hast, R., Schlegelberger, B., Porwit, A., Hellström-Lindberg, E., & Mufti, G. J.
- Affiliations
- King's College London (GB)
- From the Department of Medicine, Center for Experimental Hematology, and Department of Pathology and Oncology, Karolinska Institutet, Stockholm, Sweden; King's College London School of Medicine, London, United Kingdom; and Institute of Cell and Molecular Pathology, Hannover Medical School, Hannover, Germany.
- ORCID
- Venue
- Journal of Clinical Oncology
- Published
- 2011-05-20
- Volume
- 29
- Issue
- 15
- Pages
- 1971-1979
- ISSN
- 0732-183X (ISSN-L)
- 1527-7755
- OpenAlex
- W2131256397
- Cited by
- 463
- References
- 33
- Citations by year
- 2026: 10 · 2025: 12 · 2024: 26 · 2023: 23 · 2022: 27 · 2021: 31 · 2020: 27 · 2019: 33 · 2018: 28 · 2017: 37 · 2016: 34 · 2015: 44 · 2014: 38 · 2013: 47 · 2012: 26
- FWCI
- 28.44
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Journal of Clinical Oncology (publishedVersion)
- PubMed (publishedVersion)
- Research Portal (King's College London) (submittedVersion)
- Topics
- Health Sciences › Medicine › Hematology › Acute Myeloid Leukemia Research
- Health Sciences › Medicine › Oncology › Cancer-related Molecular Pathways
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Retinoids in leukemia and cellular processes
- Keywords
- TP53 mutation, myelodysplastic syndrome, del(5q), p53 expression, disease progression, cytogenetic response, clone size, disease heterogeneity
- MeSH terms
- Adult, Aged, Aged, 80 and over, Chromosome Deletion, Chromosomes, Human, Pair 5, Female, Humans, Male, Middle Aged, Myelodysplastic Syndromes, Peptide Fragments, Prognosis, Risk, Leukemia, Myeloid, Acute, Genes, p53, Tumor Suppressor Protein p53, Disease Progression
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