Genetic Abnormalities in the Diagnosis and Treatment of Childhood Acute Myeloid Leukemia: A Prospective Study at Hue Central Hospital, Vietnam

儿童急性髓系白血病诊断和治疗中的遗传异常:越南顺化中心医院的一项前瞻性研究

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Abstract

BACKGROUND: Genetic tests are important in the classification, treatment, and prognosis of acute myeloid leukemia (AML). The present study aimed to detect genetic abnormalities and investigate the correlation between gene abnormalities and the treatment results of childhood AML. METHODS: A descriptive cross-sectional study of 35 children with de novo AML was established between 2017 and 2022 at Hue Central Hospital, Vietnam. Parameters of age, gender, gene fusions, remission, relapse rate, and survival rates were investigated. RESULTS: The male-to-female ratio was 1.92:1. The mean age was 7.3±4.9 years. The multiplex reverse transcription polymerase chain reaction (RT-PCR) using the HemaVision 28N kit test results showed that 12 (34.3%) patients had genetic abnormalities, of which five (14.2%) patients had AML1/ETO fusion, three (8.6%) had PML/RARA fusion, two (5.7%) had MLL/AF6 fusion, one (2.9%) had KMT2A/MLLT10 fusion, and one (2.9%) had AML1/ETO and BCR/ABL1 fusion. Prognostic grouping according to genetic mutation showed eight (22.9%) patients with a favorable prognosis, 23 (65.7%) patients with an intermediate prognosis, and four (11.4%) patients with a poor prognosis. There were significant relationships between the remission rate and the genetic risk group. The remission rates for poor, intermediate, and good prognosis groups were 25%, 43.5%, and 100%, respectively. However, there were no statistical correlations between the relapse rate, the overall survival rate, and the event-free survival rate with the genetic risk group. CONCLUSIONS: Genetic abnormalities have a role in the classification, prognosis, and treatment of AML patients. However, treatment outcomes in AML are influenced by multiple factors beyond genetics, including infection-related complications, nutritional status, socioeconomic conditions, supportive care infrastructure, and access to intensive chemotherapy and transplant services. Supportive care plays an important role in the treatment outcome of childhood AML.

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