ORIGINAL RESEARCH article
Front. Oncol.
Sec. Pediatric Oncology
Volume 15 - 2025 | doi: 10.3389/fonc.2025.1666527
This article is part of the Research TopicDiagnosis and Therapy Pediatric Hematological Malignancies - Recent Progress - Volume IIView all 7 articles
Next-generation sequencing reveals clinical features and prognosis of gene mutations in Chinese children with T-cell acute lymphoblastic leukaemia
Provisionally accepted
- Department of Haematology, Children’s Hospital of Soochow University, Suzhou, China
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Background and objective: The 5-year overall survival (OS) for paediatric T-cell acute lymphoblastic leukaemia (T-ALL) exceeds 80% under the current treatment strategies; however, some patients suffer from treatment failure. Next-generation sequencing (NGS) identified recurrent mutated genes in TALL that might affect diagnosis, classification, prognostic stratification, and treatment response. This study aimed to characterise the clinical features and prognosis of gene mutations in paediatric patients with T-ALL. Methods: We enrolled 144 paediatric patients with T-ALL at our centre. Chi-square or Fisher's exact tests were used for categorical variables, and Kaplan–Meier and log-rank tests analysed the survival rates of these patients. Results: The most common mutations were in NOTCH1 (58.3%), FBXW7 (19.4%), and PTEN (17.4%). Of 1262 gene mutations detected, 50 had a mutation frequency of >1%. Common mutations were not correlated with 5-year OS. Patients with higher NOTCH1 mutation loads had a lower proportion of D15 minimal residual disease ≥0.01% and better survival than those with a lower load. Conclusion: This study reported the gene mutation spectrum of Chinese paediatric T-ALL, highlighting the role of NGS in molecular classification, risk stratification, and prognosis. Additionally, we emphasised the role of the variant allele frequency of NOTCH1 mutations in the treatment response and prognosis of childhood T-ALL.
Keywords: T-cell acute lymphoblastic leukaemia, Gene mutations, Paediatric, Next-generationsequencing, prognosis
Received: 15 Jul 2025; Accepted: 25 Aug 2025.
Copyright: © 2025 Zhang, Chu, LI, Ji, Meng, Hu and Liu. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Hu Liu, Department of Haematology, Children’s Hospital of Soochow University, Suzhou, China
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