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De novo TP53 germline activating mutations in two patients with the phenotype mimicking Diamond–Blackfan anemia
Abstract
Diamond–Blackfan anemia (DBA) is an inherited bone marrow failure syndrome, associated with mutations in ribosomal protein (RP) genes. Growing data on mutations in non‐RP genes in patients with DBA‐like phenotype became available over recent years. We describe two patients with the phenotype of DBA (onset of macrocytic anemia within the first year of life, paucity of erythroid precursors in bone marrow) and germline de novo variants in the TP53 gene. Both patients became transfusion independent, probably due to L‐leucine therapy. The possible role of TP53 variants should be considered in patients with DBA‐like phenotype and no mutations in RP genes.
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“Although p53 mutations involved in human cancer are associated with a loss of the tumor suppressive effect of TP53, there have also been observations of germline variants with increased p53 activity in patients with clinical phenotypes related to DBA, including anemia and facial dysmorphism [162, 163].”
From The TP53 tumor suppressor gene: From molecular biology to clinical investigations (2025) · cites this paper as [162]
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Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia
Sankaran, V. G., Ghazvinian, R., Do, R., Thiru, P., Vergilio, J.-A., Beggs, A. H., Sieff, C. A., Orkin, S. H., Nathan, D. G., Lander, E. S., et al. (2012) · Journal of Clinical Investigation · doi:10.1172/jci63597 · Cited by 342
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Cited by
The TP53 tumor suppressor gene: From molecular biology to clinical investigations
Baliakas, P., & Soussi, T. (2025) · Journal of Internal Medicine · doi:10.1111/joim.20106 · Cited by 50
Metadata
- Authors
- Fedorova, D., Ovsyannikova, G., Kurnikova, M., Pavlova, A., Konyukhova, T., Pshonkin, A., & Smetanina, N.
- Affiliations
- Dmitry Rogachev National Research Medical Center of Pediatric Hematology, Oncology and Immunology Moscow Russian Federation
- ORCID
- Venue
- Pediatric Blood & Cancer
- Publisher
- Wiley
- Published
- 2022-01-27
- Volume
- 69
- Issue
- 4
- ISSN
- 1545-5009
- 1545-5017
- Cited by
- 18
- References
- 1
- Language
- en
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- Fedorova, D., Ovsyannikova, G., Kurnikova, M., Pavlova, A., Konyukhova, T., Pshonkin, A., & Smetanina, N. (2022). De novo TP53 germline activating mutations in two patients with the phenotype mimicking Diamond–Blackfan anemia. Pediatric Blood & Cancer. https://doi.org/10.1002/pbc.29558
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