Spectrum and clinical characteristics relevance of gene mutations in Chinese pediatric acute lymphoblastic leukemia

Purpose: ：the 5-year survival rate of children with acute lymphoblastic leukemia (ALL) is 85–90%, with a 10–15% rate of treatment failure. Thus, an in-depth understanding of the biological characteristics of these patients is essential. Approximately 30% of pediatric B cell precursor (BCP)-ALL patients remain uncharacterized by the genetic analyses at the time of diagnosis. The present study aimed to characterize the spectrum and clinical relevance of recurrent driver gene mutations in a large single-center cohort of pediatric ALL. Methods：we identified the spectrum of somatic mutations in 219 pediatric ALL by next-generation sequencing and analyzed the correlation with the clinical data. Results: a total of 381 gene mutations, including SNVS and InDels, were identified in 66 different genes in 152/219 patients. Conclusion: this study depicted the specific genomic landscape of Chinese pediatric ALL and revealed the relevance between mutational characteristics and clinical features of Chinese pediatric ALL.