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Updated: May 31, 2026
Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
Published on: September 20, 2016
Genetic and Clinical Features in TP53-Mutated Patients With Myelodysplastic Neoplasms: A Retrospective Study Based on
Yanming Cheng1, Lixia Liu2, Yu Gao1
1Zhejiang Provincial Key Laboratory of Pancreatic Disease, The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China.
Background:
The recent fifth edition of World Health Organization and International Consensus Classification in 2022 recognized TP53-mutated myelodysplastic neoplasms (MDS) as a distinct entity requiring multi-hit classification. Literatures indicate that TP53 variant alle frequency (VAF) correlates with clinical outcomes. However, comprehensive studies that characterize the full mutation landscape and clinical correlations in Asian populations are still limited.
Aims:
This research aims to elucidate the mutation spectrum and baseline characteristics of TP53-mutated MDS in a Chinese cohort, thereby enhancing clinical understanding and treatment approaches.
Methods And Results:
A total of 161 TP53-mutated patients from 1589 newly diagnosed MDS with next-generation sequencing (NGS) data via a targeted 96-gene sequencing panel were analyzed to assess genomic alterations. Among 161 TP53-mutated patients (10.1% of 1589 MDS cases), we identified a predominance of missense mutations (76.9%) and frequent co-occurrence with epigenetic modifiers, notably DNMT3A (11.8%), TET2 (10.6%), and ASXL1 (9.3%). Critically, TP53 VAF correlated strongly with disease severity parameters, including hemoglobin levels, blast percentage, karyotype, and International Prognostic Scoring System (IPSS), revised IPSS (IPSS-R) risk and IPSS-Molecular (IPSS-M) classifications (all p < 0.05), suggesting that TP53 VAF serves as an important biomarker for risk stratification. In addition, patients with multiple TP53 mutations harbored significantly worse IPSS, IPSS-R, and IPSS-M risk classifications compared to those with a single TP53 mutation.
Conclusions:
This study underscores the importance of TP53 mutations in Asian MDS patients, contributing to genetic profiling in risk stratification and therapeutic decision-making.
