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