TP53 in Myelodysplastic Syndromes: Recent Biological and Clinical Findings

International Journal of Molecular Sciences

卷:21

Giuseppina Tota¹  Luisa Anelli²  Francesco Albano²  Giorgina Specchia²  Antonella Zagaria² 

[1] ;

[2] Department of Emergency and Organ Transplantation (D.E.T.O.), Hematology Section, University of Bari, 70124 Bari, Italy;

关键词: TP53 mutation, p53 expression, myelodysplastic syndrome, del(5q), prognosis, target therapy;   

DOI  :  10.3390/ijms21103432

来源: DOAJ

【 摘 要 】

TP53 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 TP53-mutated MDS, focusing on the molecular pathways activation and on its impact on the cellular physiology. In MDS, TP53 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. TP53 defects influence adversely the MDS clinical outcome and the treatment response rate, thus new therapeutic approaches are being developed for these patients. TP53 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 TP53 mutational profile.

【 授权许可】

Unknown