[Clinical Study on the Relationship between Gene Mutation Profile and Prognosis in Pediatric Acute Lymphocyte Leukemia].

OBJECTIVE

To analyze the gene mutation profile in children with acute lymphocyte leukemia (ALL) and to explore its prognostic significance.

METHODS

Clinical data of 249 primary pediatric ALL patients diagnosed and treated in the Department of Hematological Oncology of Wuhan Children's Hospital from January 2018 to December 2021 were analyzed retrospectively. Next-generation sequencing (NGS) was used to obtain gene mutation data and analyze the correlation between it and the prognosis of children with ALL.

RESULTS

227 (91.2%) were B-ALL, 22 (8.8%) were T-ALL among the 249 cases, and 178 (71.5%) were found to have gene mutations, of which 85 (34.1%) had ≥3 gene mutations. NRAS(23.7%), KRAS (22.9%),FLT3(11.2%), PTPN11(8.8%), CREBBP (7.2%), (6.4%) were the most frequently mutated genes, the mutations of KRAS, FLT3, PTPN11, CREBBP were mainly found in B-ALL, the mutations of and FBXW7 were mainly found in T-ALL. The gene mutation incidence of T-ALL was significantly higher than that of B-ALL (χ= 5.573，＜0.05) and were more likely to have co-mutations (＜0.05). The predicted 4-year EFS rate (47.9% vs 88.5%, ＜0.001) and OS rate (53.8% vs 94.1%, ＜0.001) in children with mutations were significantly lower than those of patients without mutations. Patients with mutations had higher initial white blood cell count （128.64×10/L vs 8.23×10/L，＜0.001）, and children with mutations had a lower 4-year EFS rate than those of without mutations (71.5% vs 87.2%, P＝0.037).

CONCLUSION

Genetic mutations are prevalent in childhood ALL and mutations in and are strong predictors of adverse outcomes in childhood ALL, with NGS contributing to the discovery of genetic mutations and timely adjustment of treatment regimens.