<i>TP53</i> in Myelodysplastic Syndromes: Recent Biological and Clinical Findings
<i>TP53</i> dysregulation plays a pivotal role in the molecular pathogenesis of myelodysplastic syndromes (MDS), identifying a subgroup of patients with peculiar features. In this review we report the recent biological and clinical findings of <i>TP53</i>-mutated MDS, focusin...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2020-05-01
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| Series: | International Journal of Molecular Sciences |
| Subjects: | |
| Online Access: | https://www.mdpi.com/1422-0067/21/10/3432 |
| Summary: | <i>TP53</i> dysregulation plays a pivotal role in the molecular pathogenesis of myelodysplastic syndromes (MDS), identifying a subgroup of patients with peculiar features. In this review we report the recent biological and clinical findings of <i>TP53</i>-mutated MDS, focusing on the molecular pathways activation and on its impact on the cellular physiology. In MDS, <i>TP53</i> mutational status is deeply associated with del(5q) syndrome and its dysregulation impacts on cell cycle, DNA repair and apoptosis inducing chromosomal instability and the clonal evolution of disease. <i>TP53</i> defects influence adversely the MDS clinical outcome and the treatment response rate, thus new therapeutic approaches are being developed for these patients. <i>TP53</i> allelic state characterization and the mutational burden evaluation can therefore predict prognosis and identify the subgroup of patients eligible for targeted therapy. For these reasons, in the era of precision medicine, the MDS diagnostic workup cannot do without the complete assessment of <i>TP53</i> mutational profile. |
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| ISSN: | 1661-6596 1422-0067 |