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越南顺化中心医院关于儿童急性髓系白血病诊断与治疗中基因异常的前瞻性研究

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

作者信息

Nguyen Hoa Thi Kim, Tran Hao Kiem, Phan Viet Hung, Bui Son Binh Bao

机构信息

Pediatric Department of Oncology, Hematology, and Transplant, Hue Central Hospital, Hue, VNM.

Department of Pediatrics, Hue Central Hospital, Hue, VNM.

出版信息

Cureus. 2025 Jun 12;17(6):e85864. doi: 10.7759/cureus.85864. eCollection 2025 Jun.

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.

摘要

背景

基因检测在急性髓系白血病(AML)的分类、治疗及预后判断中具有重要意义。本研究旨在检测儿童AML的基因异常情况,并探讨基因异常与治疗效果之间的相关性。

方法

2017年至2022年期间,在越南顺化中心医院对35例初发AML儿童进行了描述性横断面研究。调查了年龄、性别、基因融合、缓解情况、复发率及生存率等参数。

结果

男女比例为1.92:1。平均年龄为7.3±4.9岁。使用HemaVision 28N试剂盒进行多重逆转录聚合酶链反应(RT-PCR)检测结果显示,12例(34.3%)患者存在基因异常,其中5例(14.2%)患者有AML1/ETO融合,3例(8.6%)有PML/RARA融合,2例(5.7%)有MLL/AF6融合,1例(2.9%)有KMT2A/MLLT10融合,1例(2.9%)有AML1/ETO和BCR/ABL1融合。根据基因突变进行预后分组显示,8例(22.9%)患者预后良好,23例(65.7%)患者预后中等,4例(11.4%)患者预后不良。缓解率与基因风险组之间存在显著关系。预后不良、中等及良好组的缓解率分别为25%、43.5%和100%。然而,复发率、总生存率及无事件生存率与基因风险组之间无统计学相关性。

结论

基因异常在AML患者的分类、预后及治疗中发挥作用。然而,AML的治疗结果受多种因素影响,这些因素超出了遗传学范畴,包括感染相关并发症、营养状况、社会经济条件、支持性护理基础设施以及获得强化化疗和移植服务的机会。支持性护理在儿童AML的治疗结果中起着重要作用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b7f2/12256032/501b4861dc00/cureus-0017-00000085864-i01.jpg

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