17. Bất thường di truyền và mối liên quan với đáp ứng điều trị ở bệnh nhi lơ xê mi cấp dòng tủy điều trị tại Viện Huyết học - Truyền máu Trung ương

Abstract

Acute leukemia is the most common malignancy in children, accounting for approximately 25% of newly diagnosed cancers in patients under 16 years of age. Genetic abnormalities are considered as molecular markers in disease diagnosis, treatment and prognosis. A total of 148 AML patients aged ≤ 16 years old were included in the study of the genetic abnormalities characteristics and the correlation between genetic abnormalities characteristics and treatment outcome at the National Institute of Hematology and Blood Transfusion. Cytogenetic abnormalities were observed in 70 patients (47,3%). In which combined structural and numerical abnormalities accounted for the highest rate (30 patients, 20,3%). The t (8;21) translocation accounted for 33,3%, Y chromosome loss (LOY) and trisomy 8 accounted for a fairly high rate of 11,5% and 10,3%, respectively. Screening all the patients for 5 gene mutations by PCR technique showed that 79 cases were positive for at least 1 mutation. AML-ETO mutation was the most common gene mutation and was found in 28.95% of all cases, the FLT3-ITD mutation was observed in 22 patients (14.17%). Based on the classification of genetic prognosis factor, the studied group were divided into 3 groups: the standard-risk group accounted for the majority of 56.8%, the low-risk and high-risk groups accounted for similar proportions (20.3% and 23.0%, respectively). Overall survival (OS) and Progression- free survival (PFS) of each risk group were analyzed, OS and PFS of low- and intermediate-risk groups were significantly higher than those of high-risk groups, and this difference was completely statistically significant.