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Background: TP53 mutations confer poor prognosis and heterogeneous clinical features in myeloid neoplasms, but distinguishing factors between AML and MDS and independent prognostic markers within this high-risk group remain unclear.
Methods: This retrospective study evaluated 45 adult patients with TP53-mutated acute myeloid leukemia (AML; n = 22) or myelodysplastic syndromes (MDS; n = 23) treated at Ganzhou People’s Hospital between 2018 and 2023. Clinical, laboratory, cytogenetic, and targeted next-generation sequencing data were collected at diagnosis. Sixteen genes frequently mutated in myeloid malignancies were assessed for co-mutation patterns. Progression-free survival (PFS) and overall survival (OS) were analyzed by Kaplan-Meier and Cox regression; variables with univariate p < 0.10 entered multivariate models.
Results: MDS patients were older than AML patients (65.5 ± 9.0 vs. 56.0 ± 15.1 years; p = 0.013), and exhibited lower bone marrow blast percentages (5.6% vs. 49.5%; p < 0.001), while AML cases had higher peripheral WBC counts (8.6 × 10⁹ vs. 2.9 × 10⁹/L; p = 0.002). DNMT3A and TET2 co-mutations were most frequent (15.6% each); FLT3-ITD was enriched in AML (18.2% vs. 0%; p = 0.049). In multivariate analysis, allogeneic HSCT (HR = 0.08; p = 0.022), higher RBC count (HR = 0.39; p = 0.011), hemoglobin (HR = 0.98; p = 0.043), and albumin (HR = 0.91; p = 0.010) independently predicted superior PFS, whereas RUNX1 co-mutation (HR = 18.15; p = 0.028) and lower ALT (HR = 0.97; p = 0.018) were independently associated with OS.
Conclusions: Distinct clinical and molecular features differentiate TP53-mutated AML from MDS. Allogeneic HSCT confers marked survival benefit, and RUNX1 co-mutation identifies an ultra-high-risk subset. Early trans-plant evaluation combined with comprehensive genomic profiling is recommended to guide personalized treatment in this high-risk population.
DOI: 10.7754/Clin.Lab.2025.250835
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