Clinical features, mutational landscape and their prognostic impact in Chinese paediatric patients with T-cell lymphoblastic lymphoma.

T-cell lymphoblastic lymphoma (T-LBL) is an aggressive lymphoma that primarily affects children and young adults, and a comprehensive understanding of its molecular features is crucial for improving patient outcomes. In this study, 552 patients were included, with targeted next-generation sequencing of 262 lymphoma-associated genes performed on tumour samples from 119 patients. The associations between mutations and survival rates, as well as relapse and other clinical factors, were analysed. The results demonstrated that pleural effusion (PE) invasion was significantly associated with adverse event-free survival (EFS) and overall survival (OS) (p < 0.05). Additionally, we identified 92 genes with recurrent mutations, among which NOTCH1 (44%), FBXW7 (28%), PHF6 (11%), KRAS (10%) and NRAS (10%) were the most frequently altered. Patients with NOTCH1 mutations exhibited improved EFS and OS (p < 0.01), whereas those carrying CREBBP, PTEN and LYST mutations exhibited worse prognosis (p < 0.05). In conclusion, NOTCH1 mutations are associated with a favourable prognosis in paediatric T-LBL, while CREBBP, PTEN and LYST mutations, as well as PE invasion, are linked to poor prognosis. This study identifies key molecular and clinical factors in paediatric T-LBL progression, aiding high-risk patient identification and personalized treatment strategies.