Detection of gene mutation and its clinical significance in children with acute lymphoblastic leukemia.

Objectives: To investigate the mutation rate of the gene and its clinical significance in children with acute lymphoblastic leukemia.

Methods: A retrospective analysis was performed on the medical data of 120 children with newly diagnosed acute lymphoblastic leukemia, who were admitted to the Third Affiliated Hospital of Zhengzhou University from January 2015 to January 2020 and underwent next-generation sequencing. The clinical and molecular features were analyzed. The impact of gene mutation on the overall survival rate was evaluated in these children.

Results: Among the 120 children, 35 (29.2%) had gene mutation, 30 (25.0%) had gene mutation, and 5 (4.2%) had both and gene mutations. All mutations and 71% (25/35) of mutations were located at the 12th and 13th codons. gene mutation was detected in 35 (33.3%) out of 105 children with B-lineage acute lymphoblastic leukemia, but it was not detected in those with acute T lymphocyte leukemia. Of all the children, 11 (9.2%) were lost to follow-up, and among the 109 children followed up, 16 (14.7%) died. The children with gene mutation had a significantly lower 2-year overall survival rate than those without gene mutation (<0.05). The prognosis of children with gene mutation combined with overexpression and WBC>50×10/L at diagnosis was worse (<0.05).

Conclusions: gene mutation is commonly observed in children with B-lineage acute lymphoblastic leukemia and may have an adverse effect on prognosis.