<i>TP53</i> Combined Phenotype Score Is Associated with the Clinical Outcome of <i>TP53</i>-Mutated Myelodysplastic Syndromes

<i>TP53</i> Combined Phenotype Score Is Associated with the Clinical Outcome of <i>TP53</i>-Mutated Myelodysplastic Syndromes

Mutations of <i>TP53</i> are observed in 5–10% of patients in myelodysplastic syndrome (MDS) and are associated with adverse outcomes. Previous studies indicate that the <i>TP53</i> allelic state and variant allele frequency of <i>TP53</i> mutation impact patient...

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Autores principales: Mariko Yabe, Aidana Z. Omarbekova, Meier Hsu, Hannah May, Maria E. Arcila, Ying Liu, Ahmet Dogan, Andrew M. Brunner, Valentina Nardi, Robert P. Hasserjian, Virginia M. Klimek
Formato: article
Lenguaje:EN
Publicado: MDPI AG 2021
Materias:
myelodysplastic syndromes
<i>TP53</i>
prognosis
overall survival
PHANTM combined phenotype score
Neoplasms. Tumors. Oncology. Including cancer and carcinogens
RC254-282
Acceso en línea:https://doaj.org/article/1124622ac9fd44089ab464063b652144
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Sumario:Mutations of <i>TP53</i> are observed in 5–10% of patients in myelodysplastic syndrome (MDS) and are associated with adverse outcomes. Previous studies indicate that the <i>TP53</i> allelic state and variant allele frequency of <i>TP53</i> mutation impact patient outcomes, but there is significant heterogeneity within this MDS subgroup. We performed retrospective review of clinicopathologic and genomic information of 107 patients with <i>TP53</i>-mutated MDS. We assessed each mutation according to the phenotypic annotation of <i>TP53</i> mutations (PHANTM) and analyzed the associations between predicted <i>TP53</i> mutant function, represented by the PHANTM combined phenotype score, and overall survival (OS) using the log rank test and Cox regression. Our results indicated that patients with PHANTM combined phenotype score above the median (>1) had significantly shorter OS compared to those with scores below the median (median OS: 10.59 and 16.51 months, respectively, <i>p</i> = 0.025). This relationship remained significant in multivariable analysis (HR (95%CI): 1.62 (1.01–2.58), <i>p</i> = 0.044) and identified to have an independent prognostic influence, accounting for known risk such as IPSS-R and other standard risk variables. Our results suggest that the functional information of <i>TP53</i> mutations, represented by PHANTM combined phenotype score, are associated with the clinical outcome of patients with <i>TP53</i>-mutated MDS.

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