Gene Mutation in Acute Lymphoblastic Leukemia by DNA Sequencing

OBJECTIVE To analyze the characteristics of gene mutation in adult ALL and its clinical significance. METHODS Clinical data of 134 primary adult ALL patients and DNA sequencing results of 16 kinds of gene mutation were collected. The characteristic of gene mutation and clinical significances were statistically analyzed. RESULTS In 31 cases of 134 ALL cases (23.13%) the gene mutations were detected as follows: 19 cases of 114 B-ALL cases (16.67%), 11 cases of 19 T-ALL cases (57.89%) and 1 case of T/B-ALL. The incidence of T-ALL gene mutation was significantly higher than that of B-ALL (χ2=13.574, P<0.01). Twelve gene mutations were found, and the mutation rates was IL7R, NOTCH1, FLT3, TP53, FBXW7, PAX5, IKZF1, CREBBP, JAK3, JAK1, PHF6 and PTEN from high to low. Among 108 non-transplantable follow-up patients there was no significant difference in 1-year overall survival rate (49.7% vs 67.4%) and median non-recurrence survival time (214 days vs 260 days) between the gene mutation group (23 cases, 21.30%) and the non-mutation group(85 cases, 78.70%). There was a significant difference in 1-year survival rate between NOTCH1 mutation group (4 cases, 3.77%) and non-mutation group (102 cases, 96.23%) (50.0% vs 65.8%,χ2=9.840, P<0.01). CONCLUSION There may be multiple gene mutations in adult ALL patients. IL7R and NOTCH1 are the most common gene mutations and NOTCH1 mutation may indicate poor prognosis. Detection of gene mutations is helpful to understand the pathogenesis of ALL and evaluate the prognosis of adult ALL patients.